SINDROME DE COCKAYNE PDF

The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism , particularly the DNA in active genes. DNA damage is caused by ultraviolet rays from sunlight, radiation, or free radicals in the body. A normal cell can repair DNA damage before it accumulates. As the unrepaired DNA damage accumulates, progressively more active gene expression is impeded, leading to malfunctioning cells or cell death, which likely contributes to the signs of Cockayne Syndrome such as premature aging and neuronal hypomyelination.

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The proteins made by these genes are involved in repairing damaged DNA via the transcription-coupled repair mechanism , particularly the DNA in active genes. DNA damage is caused by ultraviolet rays from sunlight, radiation, or free radicals in the body. A normal cell can repair DNA damage before it accumulates. As the unrepaired DNA damage accumulates, progressively more active gene expression is impeded, leading to malfunctioning cells or cell death, which likely contributes to the signs of Cockayne Syndrome such as premature aging and neuronal hypomyelination.

Within the damaged cell, the CSA protein normally localizes to sites of DNA damage , particularly inter-strand cross-links, double-strand breaks and some monoadducts. They often have long limbs with joint contractures inability to relax the muscle at a joint , a hunched back kyphosis , and they may be very thin cachetic , due to a loss of subcutaneous fat. Their small chin, large ears, and pointy, thin nose often give an aged appearance. Often patients with Cockayne Syndrome will severely burn or blister with very little heat exposure.

The eyes of patients can be affected in various ways and eye abnormalities are common in CS. Cataracts and cloudiness of the cornea corneal opacity are common. The loss of and damage to nerves of the optic nerve, causing optic atrophy can occur. Despite being associated with genes involved in nucleotide excision repair NER , unlike xeroderma pigmentosum , CS is not associated with an increased risk of cancer. For example, skeletal radiography, endocrinologic tests, and chromosomal breakage studies can help in excluding disorders included in the differential diagnosis.

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