Investigation of mitochondrial pathogenesis genes in somediseases caused by mitochondrial defects

  • سال انتشار: 1400
  • محل انتشار: کنفرانس بین المللی ژنتیک و ژنومیکس انسانی
  • کد COI اختصاصی: CHGGE01_003
  • زبان مقاله: انگلیسی
  • تعداد مشاهده: 243
دانلود فایل این مقاله

نویسندگان

Mahya Sefidabyan

Science and Art University BSc biotechnology student

Fatemeh Dehghan

Science and Art University BSc biotechnology student

Mehdi Dehghani tafti

Islamic Azad University and Science and Art University

چکیده

Mitochondria are dual-membrane organ, which exists in all eukaryotes, and areknown as the energy-producing powerhouse of cells. There are a certain numberof mitochondria in each eukaryotic cell which depends on their function Theirtask is to convert the chemical energy in food into energy stored in high-energyphosphate bonds in ATP through electron transfer chains by oxidativephosphorylation. This article is a review of articles related to mitochondrialdefects and related diseases. In this article, we found out that due to theimportant role of mitochondria in the body, mitochondrial metabolic defects canhave devastating effects that can be caused by mutations in mtDNA or mutationsin nDNA and cause diseases like hereditary optic neuropathy (LHON), MELAS,MERRF, NARP, Parkinson's, mitochondrial encephalopathy syndrome, Friedrichataxia and autism, cardiomyopathy and many kinds of other diseases.The results indicate that maternal heredity plays a major role in these diseasesbecause after fertilization only the mitochondria of the egg remain and aretransferred to the zygote. Inheritance of mitochondrial diseases is purelymaternal inheritance because only the mitochondria of the egg remain afterfertilization and are inherited by the zygote. Also, the incidence of mostmitochondrial diseases is the same in both sexes.As a treatment, most attention has been focused on gene therapy for thesediseases. Currently, there are three strategies for gene therapy for mitochondrialdiseases: inhibiting the proliferation of defective genomes, introducing a healthygene into the mitochondria, and introducing a healthy gene into the nucleus withthe purpose of transferring a healthy gene protein product to the mitochondria.

کلیدواژه ها

Mitochondrial DNA, Maternal heredity, Autism, Encephalopathy,Mitochondria

مقالات مرتبط جدید

اطلاعات بیشتر در مورد COI

COI مخفف عبارت CIVILICA Object Identifier به معنی شناسه سیویلیکا برای اسناد است. COI کدی است که مطابق محل انتشار، به مقالات کنفرانسها و ژورنالهای داخل کشور به هنگام نمایه سازی بر روی پایگاه استنادی سیویلیکا اختصاص می یابد.

کد COI به مفهوم کد ملی اسناد نمایه شده در سیویلیکا است و کدی یکتا و ثابت است و به همین دلیل همواره قابلیت استناد و پیگیری دارد.