PROTEIN: THE END PRODUCT

OF GENES
▸ Polypeptide - a molecule made up of amino acids joined
by covalent peptide bonds; precursor of protein as
assembled in the ribosome during translation

▸ Protein - a molecule composed of one or more

polypeptide
PROTEIN FUNCTIONS
▸ For transport of oxygen ( hemoglobin and myoglobin )

▸ Keratin associated with the skin, connective tissue and hair of

vertebrates

▸ Function in immune system (immunoglobin)

▸ Regulates various types of chemical activity (hormone)

▸ Histones which binds to DNA eukaryotic organism

▸ Enzymes which increase the rate at which a chemical reaction reaches

equilibrium but do not alter the end point of chemical equilibrium
ONE GENE: ONE ENZYME HYPOTHESIS

▸ They provided the rst convincing experimental evidence

that genes are directly responsible for the synthesis of
enzymes with the use of Neurospora crassa (pink bread
mold)
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ONE GENE: ONE PROTEIN
ONE GENE: ONE POLYPEPTIDE
▸ Two Factors modi ed the one gene: one enzyme
hypothesis:

1. Since all enzymes are proteins, not all proteins are

enzyme. It became clear that all proteins are speci ed
by the information stored in genes.

2. Proteins were often shown to have a subunit structure

consisting of two or more polypeptide chains.
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INBORN ERROR OF METABOLISM

▸ The rst insight into the role of protein in genetic

processes provided by observations made by Sir Archibald
Garrod and William Bateson
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INBORN ERROR OF METABOLISM

▸ These are rare genetic disorders in which the body cannot

properly turn food into energy. The disorders are usually
caused by defects in speci c proteins/enzymes that help
breakdown parts of food.
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METABOLIC PATHWAY OF PHENYLALANINE AND TYROSINE
PHENYLALANINE
▸ An essential amino acid that is converted in the normal
body to tyrosine
PHENYLALANINE HYDROXYLASE (ENZYME)

▸ Is the rate limiting enzyme of the metabolic pathway that

degrades excess phenylalanine
PHENYLKETONURIA (PKU)

▸ A hereditary condition in human associated with the

inability to convert the amino acid phenylalanine to amino
acid tyrosine

▸ An autosomal recessive disease

▸ Result in mental retardation

▸ Occurs in approximately 1:11,000 births

PKU
TYROSINE

▸ Phenolic amino acid that is precursor of several important

substances such as epinephrine and melanin

TYROSINASE
▸ A copper-containing enzyme present in plant and animal
tissue that catalyses the product of melanin and other
pigments from tyrosine by oxidation.
ALBINISM (DISEASE)

▸ Inherited condition present at birth characterized by lack

of pigment that normally gives color to the skin, hair and
eyes.
HOMOGENTISIC ACID

▸ Is an intermediate of the metabolic breakdown of tyrosin

and phenylalanine; it occurs in the urine in cases of
alkaptonuria

ALKAPTONURIA
▸ An autosimal recessive condition in human caused by the
lack of enzyme homogentisic acid oxidase.

▸ It is a rare inherited disorder in which the absence of the

liver and kidney enzyme results in an abnormal
accumulation of homogentisic acid
SICKLE CELL ANEMIA
▸ A genetic disease in human caused by autosomal recessive gene,
usually fatal in the homozygous condition.

▸ Caused by an alteration in the amino acid sequence of the beta chain

globin

▸ Affected individuals contain erythrocyte which under low oxygen

tension become elongated and curved because of the polymerization
of hemoglobin as a result, a variety of tissues maybe deprived of
oxygen and suffer severe damage.

▸ They are anemic because RBC are destroyed rapidly than normal RBC

▸ Occur in 1:625 black infants

CRETINISM
▸ Most extreme manifestation of IDD (intelectual or developmental
disability)

▸ TYPES
1. Neurologic cretinism - caused by severe IDD with
hyperthyroidism in the mother during pregnancy and is
characterized by mental retardation, abnormal gait, and deaf
mutism.

2. Myxedematous Cretinism - resut from iodine de ceincy and

hypothyroidism in the fetus during late pregnancy resulting in
mental retardation, short statute, goiter and hypothyroidism.
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GALACTOSEMIA

▸ An infant is unable to metabolise the simple sugar

galactose which reaches high levels in the body, causing
damage to the liver, central nervous system and various
other body systems.

▸ An infant with galactosemia may develop jaundice,

vomiting, lethargy, irritability and convulsions.
NEW BORN SCREENING TESTS

▸ NBS is a simple procedure to nd out if a baby has a

congenital metabolic disorder that may lead to mental
retardation and even death if left untreated.

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 AMNIOCENTESIS
▸ Is the removal of small
amount of amniotic uid
from the sac around the baby

▸ Usually performed at 16
weeks in pregnancy

▸ A ne needle is inserted
under ultrasound guidance
through the mothers’
abdomen into a pool of
amniotic uid
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THANK YOU