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Transcript of Cockayne Syndrome
The error is believed to be found in the TCR (Transcription-Coupled-Repair) Pathway.
This is a subsection of the NER (Nucleotide Excision Repair)
The TCR is responsible for removing damaged DNA
The CSB (Cockayne Syndrome Group B) protein helps with
Autosomal Recessive Patern
When individuals have Cockayne Syndrome, this protein does not work correctly
DNA is not corrected
Leads to cell death
Direction of Research
currently no known cure
scientists are working towards faster diagnosis
the current research is in laboratory testing of the mutant genes to see how their mechanics influence the symptoms of this disease
Abnormally Small head
Extreme Sensitivity to Sunlight
Issues with Hearing,Sight and Tooth Decay
Changes to brain
Caused by abnormalities in the ERCC6 and ERCC8 Genes (CSA & CSB)
This issue affects the ability of DNA inside of cells to repair itself.
Cell Signaling: Diseases Project