Cockayne syndrome

Cockayne syndrome (5)

Synopsis: Health: Illness: Syndromes: Progeroid syndrome: Cockayne syndrome:


www.technology.org 2015 08388.txt.txt

in collaboration with scientists from the Institut Gustave Roussy and CEA, have succeeded in restoring normal activity in cells isolated from patients with the premature aging disease Cockayne syndrome.

This enzyme is overexpressed in Cockayne syndrome patient cells, and leads to mitochondrial defects, which in turn play a crucial role in the appearance of symptoms leading to aging in affected children.

One such disease, Cockayne syndrome (CS), has an incidence of about 2. 5 per million births and,

Children with Cockayne syndrome show marked signs of premature aging such as loss of weight, hair, hearing and sight,

Cockayne syndrome is caused by mutations in either of two genes involved in the repair of DNA damage induced by ultraviolet (UV) rays.


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