Abstract
Advancement in the diagnosis of mitochondrial diseases
Highlights
Mitochondrial diseases are caused by mutations in mitochondrial DNA or nuclear DNA that encodes mitochondrial components
We provide the details of several companies that offer next-generation sequencing (NGS) services to diagnose mitochondrial diseases
It was clear that the mitochondrial DNA (mtDNA) mutations were not solely the main culprit, but that other nuclear DNA mutations may play a role in the disease, as in some patients, the lack of mtDNA mutations were observed[182]. This situation was evident in oxidative phosphorylation (OXPHOS) deficiency when a report of the succinate dehydrogenase-complex flavoprotein subunit A (SDHA) mutations in Leigh syndrome was published, in which the SDHA gene mutations resulted in the deficiency of complex II protein in the patient[183]
Summary
Mitochondrial diseases are caused by mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial components. MELAS disease is diagnosed by the presence of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. This mutation causes translational defects of the OXPHOS protein assembly and the lack of complex I (CI), which leads to an accumulation of nicotinamide adenine dinucleotide (NAD)+ hydrogen (H) (NADH), increased glycolysis, oxidative stress, and reduced ATP production[25].
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