Mitochondrial Dysfunction and mTOR in Autism Spectrum Disorders

Öz

Autism spectrum disorders (ASD) are neurodevelopmental diseases that manifest themselves at early ages as insufficient social and communicative skills, repetitive sensory-motor behaviors and restricted interests, and peculiar combinations of these traits. Autism prevalence in wealthy nations is currently rising. Due to increasing numbers of diagnosis, studies on the genetic background of autism have gained momentum recently. Especially the research on mitochondrial dysfunction and mammalian target of rapamycin (mTOR) is important in that it might provide a great contribution to the ASD field for new treatment resources. .

Anahtar Kelimeler

• mTOR
• mitochondrial dysfunction
• autism spectrum disorders

Otizm Spektrum Bozukluklarında Mitokondriyal Disfonksiyon ve mTOR

Öz

Otizm spektrum bozuklukları (OSB), erken yaşam dönemlerinde kişilerde kendini sosyal iletişim becerilerinde yetersizlik, tekrarlayan sensori-motor davranışların yanı sıra kısıtlanmış ilgi alanları ile karakterize nörogelişimsel hastalıklardır. Otizm spektrum bozukluğunun dünya üzerindeki prevelansı yüksek gelirli ülkelerde artış göstermektedir. Bu artış dolayısıyla otizmin genetik altyapısına yönelik çalışmalar son dönemde hız kazanmıştır. Bu çalışmalardan mitokondriyal disfonksiyon ve mammalian target of rapamycin (mTOR) ilişkili olanları OSB tedavisinde yeni olanaklar sağlamak adına oldukça büyük bir potansiyel teşkil etmektedir.

Anahtar Kelimeler

• mitokondriyal disfonksiyon
• otizm
• mTOR

Kaynakça

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