Cell & its organelle

Dr Siva Prabodh Vuddandi

Professor & Head
Dept. of Biochemistry
NRI Medical College.
 Topics

Group 1 Group 2

Group 3 Group 4

Group 5 Group 6
 CELL MEMBRANE

Cell membrane is the protective cover around each cell, it is responsible for

• the maintenance of shape and size of the cell.

• It acts as a barrier, which separates extracellular fluid (ECF) from intracellular fluid (ICF).

• It is semi-permeable membrane, which selectively allows the passage of some and prevents
the entry of other constituents.

Nutrients are absorbed into the cell by cell membrane; It plays an important role in
exchange of carbon dioxide and oxygen;
• Cell membranes contain specific receptors, molecular pumps and channels for
the movement of specific selected molecules across the membrane.

• Different membranes differ in their composition and structure. E.g. Cell

membrane of myelin sheath differs from the membrane of mitochondria.

• Cell membrane is a bilipid layer.

• Cell membrane has fluid mosaic model, ie; membrane in a fluid with mosaic
(pattern) of proteins, lipids and carbohydrates embedded in it.
 Cytoskeleton

Acts as skeleton and

muscle
Provides shape and
structure
Helps move organelles
around the cell
Made of three types of
filaments
 NUCLEUS
• Nucleus is located near the center of the cell, spherical in shape.

• It is covered by a double layered membrane enclosing nucleoplasm.

• Nucleoplasm is a gel like ground substance, which contains genetic material DNA in
combination with protein histones.

• Human cell contains genetic information stored in 46 chromosomes.

• It comprises enzymes that are involved in the synthesis of DNA and RNA.

• Nucleus contains nucleolus, a small dense body rich in RNA and enzymes.
 ENDOPLASMIC RETICULUM
• Endoplasmic reticulum is an interconnected network made of tubules and vesicles.

• It extends through the cytoplasm connecting cell membrane to the nuclear membranes.

• There are two types of endoplasmic reticulum Rough and smooth endoplasmic reticulum.

- Rough endoplasmic reticulum has dense granular ribosomes lining the surface giving the
rough surface. It is the site of protein biosynthesis

- Smooth endoplasmic reticulum is smooth in appearance without the ribosomes lining., It

plays a role in detoxification, metabolic functions and synthesis of lipids and steroids.
 RIBOSOMES

• Ribosomes are small granular structures made of ґRNA and

nucleoproteins.

• They are present as free ribosomes in the cytoplasm and also seen
on the endoplasmic reticulum to give the rough appearance.

• Free ribosomes of cytoplasm are responsible for the synthesis of

mitochondria and proteins for the utilization inside the cell.
 MITOCHONDRIA
• Mitochondria is known as the power house of cell involved in the synthesis
of ATP.
• It is oval in shape covered by double layer known as outer and inner
mitochondrial membranes.
• Inner membrane forms many folds known as cristae; It contains components
and enzymes of oxidative phosphorylation for the synthesis of ATP.
• The space within the cristae is the matrix of mitochondria.
• TCA cycle, oxidation of fatty acids, few steps of urea cycle and hemoglobin
synthesis takes place in matrix of mitochondria.
 GOLGI APPARATUS

• Golgi apparatus or Golgi body is present in all cells except RBC.

• It has 8 – 10 flattened membranous sacs called as cisternae; situated near

the nucleus.

• It is concerned with processing materials like proteins and lipids.

• It labels and packs these processing materials into the proper destinations
of cell for their utilization.
 LYSOSOMES
• Lysosomes are globular structures filled with enzymes ; Enzymes synthesized in the rough
endoplasmic reticulum are transported to Golgi bodies, where they are processed and
pack in small vesicles, which are pinched off from Golgi bodies to form lysosomes.

• Lysosomes are known as suicide bags.

• The membrane disintegrates releasing the enzymes, which causes autolysis of cell
constituents.

• It contains proteases, lipases, amylases, nucleases DNAase and RNAase which digest
and remove the unwanted substances.

• It degrades and removes the excess of secretary material.

 PEROXISOMES

• Peroxisomes are small vesicles, which contains enzymes - Peroxidase &

Catalase.

• They are synthesized from rough endoplsmic reticulum.

• These play an important role in detoxification.

• They degrade hydrogen peroxide and other toxic substances produced in the
cell.
 CENTROSOMES
• Centrosome is a small region of cytoplasm adjacent to the nucleus. They play a role in movement of
chromosomes during cell division.

• It consists of two centrioles oriented at right angles to each other embedded in a mass of amorphous material
containing different types of proteins. Centrioles serve to organize microtubules.

• Centrosome is duplicated during S phase of the cell cycle.

• Just before mitosis, the two centrosomes move apart until they are on opposite sides of the nucleus.

• As mitosis proceeds, microtubules grow out from each centrosome.

• Microtubules grow with their plus ends toward the metaphase plate. Microtubules are necessary for the
formation and function of mitotic spindle during mitosis.
Subcellular fractionation- ULTRCENTRIFUGATION
MARKER ENZYMES

ORGANELLE MARKER ENZYME

Mitochondria – inner membrane Succinate dehydrogenase
Mitochondria – outer membrane Monoamine oxidase
Lysosomes Galactosidase
Endoplasmic reticulum Glucosidase
Plasma membrane Nucleotidase
Golgi apparatus Galactosyl or Sialyltransferase
Nucleus DNA Polymerase
Transport mechanisms across cell membrane
Molecule Movement & Cells
• Passive Transport

• Active Transport

• Endocytosis (phagocytosis & pinocytosis)

• Exocytosis
 Passive Transport
• No energy required

• Move due to gradient

• differences in concentration, pressure, charge

• Move to equalize gradient

• High moves toward low
 Types of Passive Transport

1. Diffusion - oxygen (O2), carbon dioxide (CO2), and lipids.

2. Osmosis - movement of fluid across a membrane in response to

differing concentrations of solutes on the two sides of the membrane.

3. Facilitated diffusion - Glucose and amino acid Transport

 Diffusion
• Molecules move to equalize concentration
 Osmosis
• Special form of diffusion

• Fluid flows from lower solute concentration

• Often involves movement of water

• Into cell
• Out of cell
Solution Differences & Cells
• solvent + solute = solution
• Hypotonic
• Solutes in cell more than outside
• Outside solvent will flow into cell

• Isotonic
• Solutes equal inside & out of cell

• Hypertonic
• Solutes greater outside cell
• Fluid will flow out of cell
Facilitated Diffusion
• Differentially permeable membrane

• Channels (are specific) help molecule or ions enter or leave

the cell
• Channels usually are transport proteins
(aquaporins facilitate the movement of water)
• No energy is used
Process of Facilitated Transport
• Protein binds with molecule
• Shape of protein changes
• Molecule moves across membrane
Active Transport
• Molecular movement
• Requires energy (against gradient)
• Example is sodium-potassium pump
Endocytosis
• Movement of large material
• Particles
• Organisms
• Large molecules

• Movement is into cells

• Types of endocytosis
• bulk-phase (nonspecific)
• receptor-mediated (specific)
Process of Endocytosis
• Plasma membrane surrounds material
• Edges of membrane meet
• Membranes fuse to form vesicle
Forms of Endocytosis
• Phagocytosis – cell eating
• Pinocytosis – cell drinking
Exocytosis
• Reverse of endocytosis
• Cell discharges material
Exocytosis
• Vesicle moves to cell surface
• Membrane of vesicle fuses
• Materials expelled
• Protein, or when the cell is getting rid of a waste product or
a toxin.
• axon releasing a neurotransmitter
Conclusion:

• Passive Transport
• Active Transport
• Endocytosis (phagocytosis & pinocytosis)
• Exocytosis
Cell organelles and inherited metabolic diseases
• Metabolic processes in the cell are catalyzed by enzymes and enzyme
systems present in cytosol and in various intracellular organelles.
• Four well-defined groups of genetic diseases are recognized in which the
functions of an intracellular organelle are impaired:
֍Lysosomal storage diseases,
֍ Mitochondrial disorders,
֍ Endoplasmic reticulum storage diseases,
֍ Peroxisomal diseases. 
Lysosomal storage diseases
Lysosomal storage diseases or disorders (LSDs) are rare genetic conditions that cause a
buildup of toxic materials in your body’s cells
• Aspartylglucosaminuria
• Batten Disease
• Cystinosis
• Fabry Disease
• Gaucher Disease Types I, II, and III
• Glycogen Storage Disease II (Pompe Disease)
• Tay Sachs Disease
• Hurler Disease
• Niemann-Pick Disease
• Niemann-Pick Disease : Niemann-Pick disease is a group of inherited
disorders related to fat metabolism. Certain characteristics common
to all types include enlargement of the liver and spleen. Children
with Niemann-Pick disease, types A or C, also experience progressive
loss of motor skills, feeding difficulties, progressive learning
disabilities, and seizures
• Aspartylglucosaminuria: Patients appear normal for several months
after birth and then present with recurrent infections, diarrhea,
and hernias. Later, there may be a gradual coarsening of facial
features, an enlarged tongue (macroglossia) and enlargement of the
liver (hepatomegaly)
Mitochondrial disorders

Group of genetic disorders that are characterized by defects in oxidative phosphorylation

and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA
(mtDNA) that encode structural mitochondrial proteins or proteins involved in
mitochondrial function. 
• Kearns Sayre Syndrome.
• Alpers’ Disease.
• Mitochondrial Encephalomyopathy,Lactic Acidosis and Stroke-like
Episodes (MELAS) - affects the brain,nervous system and muscles.
• Barth Syndrome.
• Pearson Syndrome.
• Kearns-Sayre syndrome (KSS)
Onset: Before age 20
Symptoms: This disorder is defined by chronic progressive external
ophthalmoplegia (CPEO), which consists in slowly progressive
weakness (paresis) of the muscles that control the eye movement
(extraocular muscles) along bilateral ptosis (dropping eyelid), plus
pigmentary retinopathy, a “salt-and-pepper” pigmentation in the
retina that can affect vision but often leaves it intact.
Other common symptoms include conduction block (in the heart),
deafness, diabetes, anemia, and ataxia (impaired coordination). Less
typical symptoms are cognitive disability or deterioration, delayed
sexual maturation, and short stature.
• Mitochondrial encephalomyopathy, lactic acidosis, and stroke-
like episodes (MELAS)
Onset: Usually in childhood
Symptoms: MELAS causes lactic acidosis (buildup of lactate in the body) and recurrent stroke-like episodes in the
brain, migraine-type headaches, vomiting, and seizures, and can lead to permanent brain damage. Other common
symptoms include PEO, general muscle weakness, exercise intolerance, hearing loss, diabetes, and short stature.

• Maternally inherited deafness and diabetes (MIDD)

Onset: Typically between age 30-40
Symptoms: MIDD is characterized by both a defect in insulin secretion, which progresses to insulin dependence, and
sensorineural hearing loss. Other abnormalities associated with MIDD are macular retinal dystrophy, myopathy,
cardiac disorders, gestational diabetes, renal disease, short stature, and gastrointestinal disease.

• Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Onset: Usually between the first and fifth decades of life but occurs before the age of 20 in 73% of patients
Symptoms: This disorder causes ptosis (droopy eyelids), severe gastrointestinal dysmotility, cachexia (extreme weight
loss and muscle wasting), ophthalmoplegia (paralysis of the extraocular muscle), ophthalmoparesis (weakness of the
extraocular muscle) without diplopia (double vision), gastrointestinal reflux, episodic abdominal pain, and diarrhea.
• Myoclonus epilepsy with ragged red fibers (MERRF)
Onset:  Childhood, usually after a normal development
Symptoms: The most prominent symptoms are myoclonus (muscle jerks), seizures, ataxia (impaired
coordination), and myopathy (muscle weakness). The disease might also cause hearing impairment,
spasticity, cardiomyopathy, and optic atrophy (death of retinal cells).

• Neuropathy, ataxia, and retinitis pigmentosa (NARP)

Onset: Late-childhood or adult onset is common
Symptoms: NARP causes neuropathy (a malfunction of the nerves that can lead to sensory
impairment and muscle weakness), muscle weakness, epilepsy, ataxia (impaired coordination), and
retinitis pigmentosa (degeneration of the retina in the eye, with resulting loss of vision). It also can
cause developmental delay, seizures, and dementia.14

• Pearson syndrome
Onset: Congenital
Symptoms: This syndrome causes severe anemia, neutropenia (low level of immune cells, called
neutrophils), thrombocytopenia (low blood platelet count), and malfunction of the pancreas. Pearson
syndrome is usually fatal in infancy. Children who survive the disease usually go on to develop
Kearns-Sayre syndrome (KSS).
Endoplasmic Reticulum Storage Diseases (ERSD)

Endoplasmic Reticulum Storage Diseases (ERSD) represent a novel group of

inborn errors of metabolism affecting secretory proteins and resulting in
hepatocytic storage and plasma deficiency of the corresponding protein.
• ERSD include

Alpha-1-antitrypsin deficiency,
Fibrinogen storage disease
Alpha-1-antichymotrypsin deficiency
 Peroxisomal Disorders

Peroxisomal disorders are a group of hereditary metabolic disorders

 that occur when peroxisomes are missing or do not function
correctly in the body.
 
• Zellweger syndrome (ZS),
• Neonatal adrenoleukodystrophy,
• Infantile Refsum disease (IRD)
• Zellweger syndrome and neonatal adrenoleukodystrophy occur in
infancy.
• Refsum disease occurs later, even in adulthood in some people.
• Symptoms of these disorders may include distinctive facial features,
brain and spinal cord defects, destruction of the tissues that wrap
around nerves (demyelination), seizures (in newborns), and weak
muscle tone (hypotonia).
• Children may have an enlarged liver and cysts on their kidneys.
Children may also have short limbs, a specific bone abnormality called
chondrodysplasia punctata (which affects the growth of the long
bones), cataracts, abnormal growth of blood vessels in the eye
(retinopathy), hearing loss, and weakness, numbness, and pain in the
hands and feet.
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