Table of Contents

LIPIDS ................................................................................................................................................ 1 TYPES OF LIPIDS(CLASSIFICATION OF LIPIDS)................................................................................................ 2 STRUCTRURE OF LIPIDS AND SPECIAL TYPES ................................................................................................ 3 LIPIDS FUNCTIONS ON CELLULAR LEVEL ...4 GENERAL BODY FUNCTION.....5 LIPIDS DISORDERS6 FAMILIAL DISORDERS...7 NUCLEIC ACIDS..8 TYPES OF NUCLEIC ACIDS..9 DIFFERENCES BETWEEN DNA AND RNA...10 DOUBLE HELIX STRUCTURE OF DNA...11 CHEMICAL STRUCTURE OF RNA ...12 STRUCTURE OF DNA...13 FUNCTIONS OF DNA ..14 FUNCTION OF RNA.15 GENETIC DISORDERS....16 GENE MUTATION.17 POINT MUTATION.,,,..........................................................................................18

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WHAT ARE LIPIDS?

Lipids are biological molecules that are insoluble in water but soluble in nonpolar solvents. Lipids have a wider spectrum of compositions and structures because they are defined in terms of their physical properties (water solubility). Lipids are the waxy, greasy, or oily compounds found in plants and animals. wax coating that protects plants used as energy storage structural components (cell membranes) insulation against cold

CLASSIFICATION OF LIPIDS
Lipids are divided into Saponifiablelipids o contain esters, which can undergo saponification (hydrolysis under basic conditions) (waxes, triglycerides, phospho- glycerides, sphingolipids) Nonsaponifiable lipids o do not contain ester groups, and cannot be saponified (steroids, prostaglandins) Saponifiablelipids can also be divided into groups

o Simple lipids contain two types of components (a fatty acid and an alcohol) o Complex lipids contain more than two components (fatty acids, an alcohol, and other components)

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SOURCE:
http://www2.chemistry.msu.edu/faculty/reusch/VirtTxtJml/lipids.htm
www.biologyexams4u.com

STRUCTURE OF LIPIDS LIPIDS

hydrophobic molecules composed of C, H and O less OH groups and longer hydrocarbons compared to carbohydrates therefore less soluble in H2O suited to their function of long term stored energy reserve and membrane components (barriers to water based cellular environment

SPECIAL TYPES OF LIPIDS AND THEIR STRUCTURE

fats

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phospholipids steroids waxes

FATS

common energy storage in animals within adipose tissue thermal insulation effect stored as triglycerides in plants and animals glycerol + 3 fatty acids

O HOCCH2CH2CH3 O HOCCH2CH2CH==CHCH3 O HOCCH2CH2CH3 Fatty acids can be either saturated (full number of hydrogen/no double bonds) or unsaturated (contain double bonds) A condensation reaction occurs between the carboxyl group of the fatty acids and the hydroxyl groups of the glycerol (thats why you need 3 fatty acids because there are 3 hydroxyl groups). The resulting bond is called an ester bond. O O ROH + R1COH -> ROCR1 + H2O The ester bond has limited hydrogen bonding capacity. In fact, fatty acids are stabilized by hydrophobic interactions. In a saturated fat the hydrophobic interactions are stronger because the fatty acid chains are able to stack very closely together, thus forming fats that are solids at room temperature. Unsaturated fats are liquids at room temperature because the double bonds in the chain allow for kinking in the chain which prevents close stacking of the molecules.

PHOSPHOLIPIDS
Phospholipids have a phosphate group on one of the carbons and only 2 fatty acids attached via an ester linkage. The presence of the phosphate group creates a hydrophilic end in this molecule and the fatty acid portion is hydrophobic. This makes the phospholipids s excellent barriers as in membrane structure.

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STEROIDS

compact hydrophobic molecules containing four fused rings and various functional groups cells use steroids as a building block for certain vitamins like vitamin D some sex hormones are steroids cholesterol is an important membrane steroid that controls cell fluidity and permeability

WAXES

hydrophobic molecules composed on long chain fatty acids linked to alcohols length of chain provides for pliable yet firm consistency form waterproof layers on plants

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SOURCE:
http://schoolworkhelper.net/biological-molecules/

LIPID FUNCTION AND METABOLISM IN HUMAN BODY:

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SOURCE:
http://www.elmhurst.edu/~chm/vchembook/620fattyacid.html

The functions of lipids in human cells

Lipids are molecules found throughout the cell with a wide variety of unique functions. They are hydrophobi small molecules and serve a variety of functions, including signaling, cellular structure, and energy storage. Below is a list of various lipid functions throughout the cell. 1) Membrane structure and cell organization. The most recognizable function of lipids is their use in membrane structure. Lipids are the main component of all biological membranes, including the outer plasma membrane as well as the membranes of various organelles found within eukaryotes. Their structure, an amphipathic tail with head-group that is often charged, allows them to organize tail to tail with other lipids and form a bilayer. This organization is relatively impermeable and allows for selective permeability of a variety of molecules. 2) Membrane consistency. While membranes are made of lipids, some lipids function not just to make up the bulk of the membrane but to regulate its fluidity and consistency. Cholesterol, for instance, reduces the permeability of the lipid-based membranes to sodium ions and protons. It is also critical in helping the cell "pinch off" portions of membranes for division and to form small vesicles. 3) Energy storage. Lipids are also very important for energy storage in organisms. Fat tissue, for instance, is made primarily of high energy lipids that have been sequestered from the major metabolic pathways. When broken down in fatty acid oxidation, lipids generate about 9 kcal/gram of energy. You can compare
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this to carbohydrates and proteins, which only produce about 4 kcal/gram. The body uses lipids to more efficiently store unused energy. 4) Cell signaling. There are a number of lipid molecules that are critical for important cell signaling pathways. Some lipids are signaling small molecules that are responsible for changes in cell growth, apoptosis and immune response. Others, like estrogen and testosterone, are important for the modulation of reproduction, organism development, blood pressure and metabolism. 5) Transport and metabolism. A few lipids, including carnitine, are instrumental in transporting fatty acid chains to the mitochondria for breakdown and metabolism. These lipids bind fatty acids directly and actually provide a transport carrier that prevents interactions with the fatty acids outside of the mitochondria. 6) Vitamins with specific roles. Vitamins, such as vitamins A, D, E and K, are fat-soluble lipids with a huge variety of uses. Vitamin A, also known as retinol, is important for vision and bone growth in higher order organisms. Vitamin Dis critical for calcium absorbtion by the body. Vitamin K is an important of coagulation, which is important for repairing damage down to the body. SOURCE
http://www.helium.com/items/1639354-functions-of-lipids-in-human-cells

Function of Lipids in human body: Lipids as an Energy Reserve:

Nearly all of the energy needed by the human body is provided by the oxidation of carbohydrates and lipids. Whereas carbohydrates provide a readily available source of energy, lipids function primarily as an energy reserve. The amount of lipids stored as an energy reserve far exceeds the energy stored as glycogen since the human body is simply not capable of storing as much glycogen compared to lipids. Lipids yield 9 kcal of energy per gram while carbohydrates and proteins yield only 4 kcal of energy per gram. It is interesting to compare the relative amounts of energy provided by various biochemicals in a typical 154 lb male. The free glucose in the blood provides only a 40 kcal energy reserve -- only enough to maintain body functions for a few minutes. Glycogen remaining stored in the liver and muscles after an overnight fast, amounts to about 600 kcal energy. Glycogen reserves can maintain body functions for about one day without new inputs of food. Protein (mostly in muscle) contains a substantial energy reserve of about 25,000 kcal. Finally, lipid reserves containing 100,000 kcal of energy can maintain human body functions without food for 30-40 days with sufficient water. Lipids or fats represent about 24 pounds of the body weight in a 154 pound male. Lipids provide the sole source of energy in hibernating animals and migrating birds. Fortunately, lipids are more compact and contain more energy per gram than glycogen, otherwise body weight would increase approximately 110 pounds if glycogen were to replace fat as the energy reserve.
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Lipids in the Blood:

Lipids ingested as food are digested in the small intestine where bile salts are used to emulsify them and pancreatic lipase hydrolyzes lipids into fatty acids, glycerol, soaps, or mono- and diglycerides. There is still some dispute about the lipid form that passes through the intestinal wall -- whether as fatty acids or as glycerides. In either case, triglycerides are found in the lymph system and the blood.Since lipids are not soluble in blood, they are transported as lipoproteins after reaction with water-soluble proteins in the blood. Fatty acids are generally transported in this form as well.There is always a relatively constant supply of lipids in the blood, although of course, the concentration increases immediately following a meal. Lipids in the blood are absorbed by liver cells to provide energy for cellular functions from other foods, such. The liver is responsible for providing the proper concentrations of lipids in the blood. Some lipids are utilized by brain cells to synthesize brain and nerve tissue.Excess lipids in the blood are eventually converted into adipose tissue. If lipid levels in the blood become too low, the body synthesizes lipids as carbohydrates, or removes lipids from storage. The body also excretes some lipids in the form of fats, soaps, or fatty acids as a normal component of feces.Abnormally high levels of triglycerides and cholesterol are thought to be involved in hardening of the arteries. Lipids may be deposited on the walls of arteries as a partial consequence of their insolubility in the blood.

LIPIDS DISORDERS
Lipid disorders are a group of medical conditions which refer to excessive levels of fatty substances in the bloodstream. These fatty substances include cholesterol and triglycerides. An excess of 'bad' cholesterol increases your risk of heart disease and stroke. Types Lipid disorders are a group of medical conditions which refer to excessive levels of fatty substances in the bloodstream. These fatty substances include cholesterol and triglycerides. An excess of bad cholesterol increases your risk of heart disease and stroke.

Types of Lipids
Lipoproteins carry cholesterol in the blood.

High Density Lipoprotein (HDL) Cholesterol - HDL cholesterol is commonly known as good cholesterol. It removes excess cholesterol and may prevent cholesterol build up in the blood vessels and lower your risk of heart disease. Low Density Lipoprotein (LDL) Cholesterol - LDL cholesterol is often called bad cholesterol. It can build up slowly in the inner walls of the arteries contributing to the formation of cholesterol plaques. Cholesterol plaques can block up arteries resulting in the hardening and narrowing of arteries (atherosclerosis).

Triglycerides
Triglycerides are a form of fat from food; they are also made in the body from other sources of energy like carbohydrates. High levels can increase your risk of heart disease.
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Causes & risk factors

Apart from genetic causes of lipid disorders, diet high in fats will also increase cholesterol. All fats and oil contain a mixture of saturated, mono- and poly-unsaturated fats in different proportions. Some foods contain more saturated fat than others. The type and amount of fat in your diet can affect your blood cholesterol level. It is important to limit your intake of ALL types of fats. There are 4 types of fat in your diet.

Saturated fats (SFA)

These are found mainly in animal foods, like butter, ghee, lard, cream, fat on meat, milk fat and cheese. Vegetable fats like coconut oil, palm kernel oil, palm oil and cocoa butter are rich sources. Too much SFA raises total and LDL cholesterol.

Trans fats
These are formed during the hydrogenation of unsaturated oil a commercial process to harden oil for production of fats like shortening and hard margarine. Hydrogenation causes the oil to be more saturated.Too much trans fats raises blood cholesterol.

Polyunsaturated fats (PUFA)

These are found mainly in nuts, grains and seeds such as sunflower, soya bean, corn and sesame. Some oily fish such as sardine, salmon, mackerel and herring also contain high amounts of polyunsaturated fat called omega-3 fattyacids, which makes blood clot less easily and reduces the risk of stroke. PUFA helps to lower blood cholesterol.

Monounsaturated fats (MUFA)

These are present in olive, canola, peanut and sesame oils, almonds and avocados. Studies have shown that MUFA can lower LDL-cholesterol and increase HDL-cholesterol.

Signs & symptoms

Lipid disorders are usually silent . They are usually picked up during screening or during routine blood tests for other medical conditions. Otherwise, they may only be diagnosed when the complications arise e.g. angina, heart attacks, stroke.

Complications
When there is too much bad cholesterol in your blood, the excess cholesterol gets deposited in the walls of your blood vessels. These deposits cause narrowing and hardening of the blood vessels or atherosclerosis. This can lead to slowing down or blockage of the flow of blood, resulting in angina (chest pain) and heart attacks stroke peripheral artery disease (narrowing of the blood vessels of the limbs). Lowering of abnormal LDL cholesterol level is most important in the prevention of the above diseases.

Familial Lipid Disorders

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A familial lipid disorder is a condition that runs in families. It causes very high levels of cholesterol. This condition can cause a person to get coronary artery disease (CAD) while still young. Because familial lipid disorders are rare, your doctor may only suspect one if you have:

Very high cholesterol levels. A family history of high cholesterol. A family history of early CAD. Certain results from a physical exam.

Your family doctor may not have much experience with familial lipid disorders, so you may have to see a specialist, such as an endocrinologist. And somecardiologists specialize in lipid disorders as well as heart problems. Types of familial lipid disorders Disorder Cholesterol level Other details Appears in adulthood Happens more often in families with obesity,hypertension, and diabetes

Familial combined hyperlipidemia High total cholesterol, (FCHL) usually with hightriglycerides Hightriglycerides and low HDL Familial defective apolipoprotein B-100 Familial dysbetalipoproteinemia(type 3 hyperlipoproteinemia) High LDL Total cholesterol of 300600 Triglyceride of 400-800

CAD, heart attack, andstroke at a young age Xanthomas, a skincondition in which small bumps of fat appear under the skin Risk for even higher triglycerides from other causes CAD before age 50 Small, pale ring around theiris of the eye Xanthomas on tendons in young adults

Familial hypertriglyceridemia Heterozygous familial hypercholesterolemia

Very high triglycerides Total cholesterol of 325450

SOURCE:

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http://www.webmd.com/cholesterol-management/tc/familial-lipid-disorders-topicoverview http://www.hpb.gov.sg/HOPPortal/dandc-article/772

Living organisms are complex systems. Hundreds of thousands of proteinsexist inside each one of us to help carry out our daily functions (see ourFats and Proteins module for more information). These proteins are produced locally, assembled piece-by-piece to exact specifications. An enormous amount of information is required to manage this complex system correctly. This information, detailing the specific structure of the proteins inside of our bodies, is stored in a set of molecules called nucleic acids. The nucleic acids are very large molecules that have two main parts. The backbone of a nucleic acid is made of alternating sugar and phosphate molecules bonded together in a long chain, represented below:

sugar

phosphate

sugar

phosphate

...

Each of the sugar groups in the backbone is attached (via the bond shown in red) to a third type of molecule called a nucleotide base: nucleotide base | sugar nucleotide base | phosphate sugar phosphate ...

Though only four different nucleotide bases can occur in a nucleic acid, each nucleic acid contains millions of bases bonded to it. The order in which these nucleotide bases appear in the nucleic acid is the coding for the information carried in the molecule. In other words, the nucleotide bases serve as a sort of genetic alphabet on which the structure of each proteinin our bodies is encoded. SOURCE:
http://biology.about.com/gi/o.htm?zi=1/XJ&zTi=1&sdn=biology&cdn=education&tm=76&f=10& su=p284.13.342.ip_&tt=2&bt=0&bts=6&zu=http%3A//www.visionlearning.com/library/module _viewer.php%3Fmid%3D63

TYPES OF NUCEIC ACID

There are two types of nucleic acids that are important to living things.

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DNA (deoxyribonucleic acid) RNA (ribonucleic acid)

These molecules are also polymers of smaller units called nucleotides; each nucleotide consist of a sugar (ribose or deoxyribose), a phosphate group, and one of several "bases" that are either purines or pyrimidines. Alternating sugar molecules and phosphate groups are bonded together to form the backbone of the nucleic acid, and a purine or pyrimidine base is bonded to each of the sugars, as illustrated on the right.

There are several differences between DNA and RNA.

DNA contains the sugar deoxyribose, while RNA contains the sugar ribose. DNA consists of two nucleotide chains that are bonded to together by weak hydrogen bonds between complementary base pairs. The double strands are wrapped to form a double helix. The bases found in DNA are limited to adenine, cytosine, guanine, and thymine; RNA has adenine, cytosine, and guanine, but hase another base called uracil instead of thymine.

The cells of living organisms have chromosomes which contain an inherited code for synthesizing all of the proteins that the organism produces. In essence, each chromosome is a gigantic molecule of double stranded DNA wound tightly into a double helix. A single chromosome contains thousands of genes, segments of DNA that encode for specific proteins. In a highly regulated process, cellular enzymes can unwind a particular segment (gene), and other enzymes move along a gene using one strand of DNA as a template to synthesize a complementary strand of messenger RNA. This newly synthesized messenger RNA will then leave the cell nucleus and move to the cytoplasm of the cell where the RNA will in turn be used as a template to synthesize a specific protein. This process will be clearer when we explore it in more detail in another online module. For the time being the video below provides an overview of this process that will be helpful. SOURCE:
http://sph.bu.edu/otlt/MPHModules/PH/PH709_A_Cellular_World/PH709_A_Cellular_World6.html

The Chemical Nature of DNA

The polymeric structure of DNA may be described in terms of monomeric units of increasing complexity. In the top shaded box of the following illustration, the three relatively simple components mentioned earlier are shown. Below that on the left , formulas for phosphoric acid and a nucleoside are drawn. Condensation polymerization of these leads to the DNA formulation outlined above. Finally, a 5'- monophosphate ester, called a nucleotide may be drawn as a single monomer unit, shown in the shaded box to the right. Since a monophosphate ester of this kind is a strong acid (pKa of 1.0), it will be fully ionized at the usual physiological pH (ca.7.4). Names for these DNA components are given in the table to the right of the diagram. Isomeric 3'-monophospate nucleotides are also known, and both isomers are found in cells. They may be obtained by selective hydrolysis of DNA through the action of nuclease enzymes. Anhydride-like di14 | P a g e

and tri-phosphate nucleotides have been identified as important energy carriers in biochemical reactions, the most common being ATP (adenosine 5'-triphosphate).

Names of DNA Base Derivatives

Base Adenine Cytosine Guanine Thymine Nucleoside 2'-Deoxyadenosine 2'-Deoxycytidine 2'-Deoxyguanosine 2'-Deoxythymidine 5'-Nucleotide 2'-Deoxyadenosine-5'-monophosphate 2'-Deoxycytidine-5'-monophosphate 2'-Deoxyguanosine-5'-monophosphate 2'-Deoxythymidine-5'-monophosphate

DOUBLE HELIX STRUCTURE OF DNA:

The double-stranded helical model for DNA is shown in figure.The easiest way to visualize DNA is as an immensely long rope ladder, twisted into a cork-screw shape. The sides of the ladder are alternating sequences of deoxyribose and phosphate (backbone) while the rungs of the ladder (bases) are made in two parts with each part firmly attached to the side of the ladder. The parts in the rung are heterocyclic amines held in position by hydrogen bonding. Although most DNA exists as open ended double helices, some bacterial DNA has been found as a cyclic helix. Occasionally, DNA has also been found as a single strand.

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RNA, a Different Nucleic Acid

The high molecular weight nucleic acid, DNA, is found chiefly in the nuclei of complex cells, known as eucaryotic cells, or in the nucleoid regions of procaryotic cells, such as bacteria. It is often associated with proteins that help to pack it in a usable fashion. In contrast, a lower molecular weight, but much more abundant nucleic acid, RNA, is distributed throughout the cell, most commonly in small numerous organelles called ribosomes. Three kinds of RNA are identified, the largest subgroup (85 to 90%) being ribosomal RNA, rRNA, the major component of ribosomes, together with proteins. The size of rRNA molecules varies, but is generally less than a thousandth the size of DNA. The other forms of RNA are messenger RNA , mRNA, and transfer RNA , tRNA. Both have a more transient existence and are smaller than rRNA. All these RNA's have similar constitutions, and differ from DNA in two important respects. As shown in the following diagram, the sugar component of RNA is ribose, and the pyrimidine base uracil replaces the thymine base of DNA. The RNA's play a vital role in the transfer of information (transcription) from the DNA library to the protein factories called ribosomes, and in the interpretation of that information (translation) for the synthesis of specific polypeptides. These functions will be described later.

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SOURCE:
http://www2.chemistry.msu.edu/faculty/reusch/VirtTxtJml/nucacids.htm http://www.elmhurst.edu/~chm/vchembook/582dnadoublehelix.html

ROLE OF RNA IN HUMAN BODY

The role of RNA, ribonucleic acid, is an important yet varied one in the human body. Among these crucial roles are catalyzation and initiation of biological reactions, control of gene expression, cellular communication, and ultimately, the synthesis of different types of proteins. The role of RNA is so important that, along with DNA and proteins, this molecule is considered one of the three macromolecules necessary to sustain life. It is possible that forms of life may exist that do not depend on these three macromolecules, but to date none have been discovered. Very similar in composition and function to its counterpart, DNA, RNA differs in three unique ways. The first is that it is single stranded, whereas DNA is a double helix. Secondly, RNA contains ribose rather than deoxyribose, and thirdly, adenine's complimentary base in RNA isuracil rather than thymine, which is the case with DNA. Functionally, the role of RNA differs in that it is more involved in transcription and translation, while DNA may be thought of as more of a template containing genetic information. RNA is synthesized using DNA as a model molecule. This process, termed transcription, is initiated by a catalyst molecule named RNA polymerase. Then, RNA serves as a more functional version of DNA, allowing genetic material to dictate particular protein synthesis within the body. The specific proteins synthesized dictate various bodily characteristics that shape the biological individuality of a particular person. SOURCE:
http://www.wisegeek.com/what-is-the-role-of-rna-in-the-body.htm

FUNCTION OF DNA IN HUMAN BODY Encoding Information

Perhaps the most familiar function of a nucleic acid in the body is that of DNA, or deoxyribonucleic acid. DNA contains the genetic code, which consists of the sum of all information a cell or organism requires to perform its functions. Your cells, for instance, have a central nucleus that contains your DNA. Based upon the information contained in the DNA, the cell can produce structural and functional proteins that allow it to function, explain Drs. Reginald Garrett and Charles Grisham in their book "Biochemistry."

Transferring Information
To make a structural or functional protein, a cell needs to get genetic information from DNA out of the nucleus and into the rest of the cell, where the protein-producing machinery is located. Nucleic acids called
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mRNA, for messenger ribonucleic acid, form in the nucleus. They copy information from the DNA, and then leave the nucleus. Out in the cytoplasm, or liquid medium of the cell, the mRNA serves as a working template of genetic information for the protein-producing machinery.

Reading Templates
Another kind of RNA, rRNA, forms a portion of a cellular organelle called the ribosome. A ribosome is a bit of cellular machinery that actually reads mRNA and generates protein, explains Dr. Lauralee Sherwood in her book "Human Physiology." The lowercase "r" in rRNA stands for "ribosomal." Once mRNA leaves the nucleus, ribosomes--made up of rRNA and protein--bind to the mRNA and begin to read the template.

Fetching Amino Acids

Protein production requires one more type of nucleic acid: tRNA. Short for "transfer RNA," these nucleic acids work with rRNA to generate proteins from mRNA templates. Proteins consist of long chains of building blocks called amino acids. As rRNA reads mRNA, the rRNA builds proteins by putting together amino acids in the correct order. The tRNA helps out by fetching the appropriate amino acids and bringing them to the ribosome for assembly into a protein. SOURCE: http://www.livestrong.com/article/376369-what-are-nucleic-acids-used-for/#ixzz2Tr4Gvxah

GENE MUTATION
Genes are segments of DNA located on chromosomes. A gene mutation is defined as an alteration in the sequence of nucleotides in DNA. This change can affect a single nucleotide pair or larger gene segments of a chromosome. DNA consists of a polymer of nucleotides joined together. During protein synthesis, DNA is transcribed into RNA and then translated to produce proteins. Altering nucleotide sequences most often results in nonfunctioning proteins. Mutations cause changes in the genetic code that lead to genetic variation and the potential to develop disease. Gene mutations can be generally categorized into two types: point mutations and base-pair insertions or deletions.

POINT MUTATIONS
Point mutations are the most common type of gene mutation. Also called a base-pair substitution, this type of mutation changes a single nucleotide base pair. Point mutations can be categorized into three types: Silent Mutation: Although a change in the DNA sequence occurs, this type of mutation does not change the protein that is to be produced. This is because multiple genetic codons can encode for the same amino acid. Amino acids are coded for by three nucleotide sets called codons. For example, the amino acid arginine is coded for by several DNA codons including CGT, CGC, CGA,

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and CGG (A = adenine, T = thymine, G = guanine and C = cytosine). If the DNA sequence CGC is changed to CGA, the amino acid arginine will still be produced. Missense Mutation: This type of mutation alters the nucleotide sequence so that a different amino acid is produced. This change alters the resulting protein. The change may not have much effect on the protein, may be beneficial to protein function, or may be dangerous. Using our previous example, if the codon for arginine CGC is changed to GGC, the amino acid glycine will be produced instead of arginine. Nonsense Mutation: This type of mutation alters the nucleotide sequence so that a stop codon is coded for in place of an amino acid. A stop codon signals the end of the translationprocess and stops protein production. If this process is ended too soon, the amino acid sequence is cut short and the resulting protein is most always nonfunctional.

Base-pair Insertions/Deletions
Mutations can also occur in which nucleotide base pairs are inserted into or deleted from the original gene sequence. This type of gene mutation is dangerous because it alters the template from which amino acids are read. Insertions and deletions can cause frame shift mutations when base pairs that are not a multiple of three are added to or deleted from the sequence. Since the nucleotide sequences are read in groupings of three, this will cause a shift in the reading frame. For example, if the original transcribed DNA sequence is CGA CCA ACG GCG ..., and two base pairs (GA) are inserted between the second and third groupings, the reading frame will be shifted. Original Sequence: CGA-CCA-ACG-GCG... Amino Acids Produced: Arginine - Proline - Threonine - Alanine ...

Inserted Base Pairs (GA): CGA-CCA-GAA-CGG-CG... Amino Acids Produced: Arginine - Proline - Glutamic Acid - Arginine ... The insertion shifts the reading frame by two and changes the amino acids that are produced after the insertion. The insertion can code for a stop codon too soon or too late in the translation process. The resulting proteins will be either too short or too long. These proteins are for the most part defunct.

GENE MUTATION CAUSES

Gene mutations are most commonly caused as a result of two types of occurrences. Environmental factors such as chemicals, radiation, and ultraviolet light from the sun can cause mutations. These mutagens alter DNA by changing nucleotide bases and can even change the shape of DNA. These changes result in errors in DNA replication and transcription. Other mutations are caused by errors made during mitosis and meiosis. Common errors that occur during cell division can result in point mutations and frame shift mutations. Mutations during cell division can lead to replication errors which can result in the deletion of genes, translocation of portions of chromosomes, missing chromosomes, and extra copies of chromosomes.

GENETIC DISORDERS

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According to the National Human Genome Institute, most all disease have some sort of genetic factor. These disorders can be caused by a mutation in a single gene, multiple gene mutations, combined gene mutation and environmental factors, or by chromosome mutation or damage. Gene mutations have been identified as the cause of several disorders including sickle cell anemia, cystic fibrosis, Tay-Sachs disease, Huntington disease, hemophilia, and some cancers. SOURCE:
http://biology.about.com/od/basicgenetics/ss/gene-mutation.htm

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