اختلالات زنجیره تنفسی میتوکندری

اختلالات زنجیره تنفسی میتوکندری

اسلاید 1: Mitochondrial Respiratory Chain Disorders1

اسلاید 2: IntroductionMitochondrial disease was first identified in 1962 in a patient whose mitochondria showed structural abnormalities and loss of coupling between oxidation and phosphorylation.it was not until 20 years later that the relevance of mutated mitochondrial DNA (mtDNA) to human disease began to be appreciated.The small circular double-stranded mtDNA contains genes coding for ribosomal RNA (rRNA) production and various transfer RNAs (tRNA) required for mitochondrial protein biosynthesis, as well as some of the proteins involved in electron transport.2

اسلاید 3: Mitochondrial disordersBecause most mitochondrial proteins, including subunits involved in electron transport, are encoded by nuclear genes, these most often follow autosomal recessive inheritance, but autosomal dominant and X-linked forms also occur. The clinical features are mainly a combination of neurological signs (encephalopathy, dementia, ataxia, dystonia, neuropathy, and seizures) and myopathic signs (hypotonia, weakness, and cardiomyopathy with conduction defects).Other symptoms and signs may include deafness, diabetes mellitus, retinal pigmentation, and acidosis may occur.3

اسلاید 4: 1- Lebers hereditary optic neuropathy Lebers hereditary optic neuropathy (LHON) is a mitochondrially inherited (transmitted from mother to offspring) degeneration of retinal ganglion cells (RGCs) and their axons that leads to an acute or subacute loss of central vision.this affects predominantly young adult males. LHON is only transmitted through the mother, as it is primarily due to mutations in the mitochondrial (not nuclear) genome, and only the egg contributes mitochondria to the embryo.4

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