Abstract
For the first time, the diagnosis of MELAS syndrome in a Yakut family was genetically verified using mitochondrial genome sequencing. The substitution of adenine for guanine at position 3243 (m.3243A>G) in the tRNALeu(UUR) gene (MT-TL1) was confirmed. The level of the mutant allele (heteroplasmia) in the patient was 38.5%, while in the mother only 9.8%, which is explained by the selection of rapidly dividing blood cells with a low level of mutant alleles during life. It has been shown that the phenomenon of mtDNA heteroplasmy forms a significant clinical heterogeneity in the manifestation of the disease and demonstrates the complexity of diagnosing subclinical forms of MELAS. Keywords: mitochondrial diseases, MELAS syndrome, m.3243A>G mutation.
Published Version
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