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Cockayne Syndrome

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AP Biology
Cockayne Syndrome
Spinal Muscular Atrophy
Diastrophic Dysplasia
Steroid Alpha Reducatse
Cadherin 6
Works Cited

Cockayne Syndrome
 

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Cockayne syndrome (CS) is an inherited disorder in which people are sensitive to sunlight, show signs of premature aging and dwarfism. There are two types of Cockyane syndrome. Type I, Classical Cockyane, the symptoms become apparent after the age half a year. Type II, a congenital form of Cockayne syndrome which is apparent at birth.

Exposure to sunlight could affect people with CS by not allowing them to make a specific DNA repair, known as 'transcription-coupled repair'. So, a gene of chromosome 5 could affect this repair and lead to CS.

This is a very rare disease and it is on a familial recesive autosomal gene. It is dormant in the first 6 months of life followed by an explosive decline in physical and mental development of the patient and eventually leads to dwarfism and mental retardation.

As time progress the symptoms of CS worsen. It leads to optica atrophy-blindess, sensitivity of the skin to light, growth retardation, abnormally long limbs, hearing impairment, and renal diseases.

The life expectency of a baby with Type I CS is 20 years. Type II CS, the life expectancy is the 5 years. There is ongoing research on this disease and 'transcription coupled repair' and with a better understanding of the mechanisms involved with this will help in developing a drug to treat this. There is still no cure for this.

Works Cited

Picture Source

http://www.ncbi.nlm.nih.gov/disease/Cockayne.html