![]() Since the description of the first mitochondrial gene mutation in 1988, 7 its medical and neurological complications have come to be well characterized. Common clinical features of mitochondrial disorder include fatigue, ptosis, ophthalmoplegia, optic atrophy, hearing loss, seizures, migraine, stroke-like episodes, ataxia, cardiomyopathy, diabetes mellitus, and proximal myopathy. 4 These disorders may present at any age and typically involve organs that are highly energy-dependent, such as muscle and brain. Mitochondrial disorders are much more common than previously appreciated, with an estimated prevalence of 9.2 per 100, 000 adults for mutations in mitochondrial DNA alone. As a result, mutations in either nuclear DNA or mitochondrial DNA can cause mitochondrial disorders. 1 Also, many of the polypeptides that form the respiratory chain complexes are encoded by nuclear DNA and are transported into the mitochondria from the cytosol. They contain their own 16.6 Kb circular, double-stranded genome, which is maternally inherited and which encodes for 13 subunits of the respiratory chain, in addition to 2 rRNAs and 22 tRNAs. Mitochondria are intracellular organelles that play a critical role in cellular energy metabolism through the Krebs cycle and respiratory chain. Mitochondrial disorders are clinical syndromes produced by a primary impairment of mitochondrial functioning.
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