Amiyotrofik Lateral Skleroz ve Gen Mutasyonları

Amiyotrofik Lateral Skleroz kortikospinal yollar, beyin sapı ve spinal kordun üst ve alt motor nöron dejenerasyonu ileseyreden progresif ve ölümcül bir hastalıktır. Etyolojide çevresel ve genetik nedenler olan multifaktöriyel bir hastalıktır.Olguların %10-20’si familyal olup %80-90’nı sporadiktir. Hastaların %50’sinden fazlasının 3, %90’ının ise 5 yıliçerisinde hayatını kaybettiğini bildirmiştir. Familyal olgularda daha sık olmak üzere hem sporadik hem de familyalolgularda genetik mutasyonlar saptanmıştır. En sık görülen mutasyon kromozom 9 open read frame 72’dir. Sporadikdismutaz 1, Transaktive response DNA-binding protein 43, Fused in Sarcoma ve Ubiquilin 2 diğer mutasyonlardır.

Amyotrophic Lateral Sclerosis and Gene Mutations

Amyotrophic lateral sclerosis is a progressive and lethal disease characterized by corticospinal tract, brain stem and spinal cord degeneration of upper and lower motor neurons.1Ethiology is a multifactorial disease with environmental and genetic causes. 10-20% of the cases are familial and 80-90% are sporadic. He reported that more than 50% of the patients lost their lives within 3 years and 90% lost their lives within 5 years. 2Genetic mutations have been detected in sporadic and familial cases, more frequently in 2 familial cases. The most common mutation is chromosome 9 open read frame 72. Sporadic dismutase, Transactable response DNA-binding protein 43, Fused in Sarcoma and Ubiquilin 2 are other mutations.

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