Question

B. What are the health consequences of inherited mutations in DNA repair pathway proteins? Can you name a couple mentioned in class? Are there others that you know of?

Answer 1

(B)HEALTH CONSEQUENCES OF INHERITED MUTATION IN DNA REPAIR PATHWAY PROTEINS

The DNA repair disorders are clinically diverse. Most cause growth retardation and a predisposition to malignancy, some cause neurodegeneration and congenital anomalies. Some disorder phenotypes may be caused by mutations in more than one gene. Also different mutations in some genes can cause more than one disease phenotype. The majority of the genes causing DNA repair disorders have recently been cloned. As these genes commonly have DNA repair as well as other cellular functions and are components of complex multistep pathways .

HUMAN SYNDROME

Ataxia telangiectasia( Louis- Bar syndrome)

Xeroderma Pigmentosum

OTHER SYNDROME THAT I KNOW ARE-

Xeroderma Pigmentosum (xp)-

Individuals are highly sensitive, presently dramatic pigmentary skin disturbances,especially in the region exposed to sunlight.

Trichothiodystrophy(TTP)-

Main symptoms are brittle hair and nails, ichthyotic skin,and physical and mental retardation.some TTD patient show photosensitivity,correlated with a the defective excision repair.