DNA helicases associated with genetic instability, cancer, and aging.

[werner syndrome]

DNA helicases have essential roles in the maintenance of genomic -stability . They have achieved even greater prominence with the discovery that mutations in human helicase genes are responsible for a variety of genetic disorders and are associated with tumorigenesis . A number of missense mutations in human helicase genes are linked to chromosomal instability diseases characterized by age-related disease or associated with cancer , providing incentive for the characterization of molecular defects underlying aberrant cellular phenotypes . In this chapter , we discuss some examples of clinically relevant missense mutations in various human DNA helicases , particularly those of the Iron -Sulfur cluster and RecQ families . Clinically relevant mutations in the XPD helicase can lead to Xeroderma pigmentosum , Cockayne 's syndrome , Trichothiodystrophy , or COFS syndrome . FANCJ mutations are associated with Fanconi anemia or breast cancer . Mutations of the Fe-S helicase ChlR 1 (DDX 11 ) are linked to Warsaw Breakage syndrome . Mutations in the RecQ helicases BLM and WRN are linked to the cancer -prone disorder Bloom 's syndrome and premature aging condition Werner syndrome , respectively . RECQL 4 mutations can lead to Rothmund-Thomson syndrome , Baller-Gerold syndrome , or RAPADILINO . Mutations in the Twinkle mitochondrial helicase are responsible for several neuromuscular degenerative disorders . We will discuss some insights gained from biochemical and genetic studies of helicase variants , and highlight some hot areas of helicase research based on recent developments .

Diseases
Validation

Diseases presenting "mutations in human helicase genes" symptom

werner syndrome

You can validate or delete this automatically detected symptom