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Cockayne Syndrome

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by

Marc Bennett

on 6 October 2014

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Transcript of Cockayne Syndrome

Cell Signaling Pathways
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
Correct Mechanism
The CSB (Cockayne Syndrome Group B) protein helps with
Transcription
DNA Repair
Chromatin Remodeling
Causes
Genetically Inherited
Autosomal Recessive Patern
Incorrect Mechanism
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
Cockayne Syndrome
NER
TCR
Core Symptoms
Short Stature
Premature Aging
Abnormally Small head
Extreme Sensitivity to Sunlight
Issues with Hearing,Sight and Tooth Decay
Changes to brain
Bone decay
Which Gene?
Caused by abnormalities in the ERCC6 and ERCC8 Genes (CSA & CSB)
This issue affects the ability of DNA inside of cells to repair itself.

Marc Bennett
Matt Burroughs
Cell Signaling: Diseases Project
2nd Block
Full transcript