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Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients. | LitMetric

AI Article Synopsis

  • A study screened 106 Vietnamese patients diagnosed with encephalomyopathy for 15 common mitochondrial mutations using PCR-RFLP.
  • Six cases of the A3243G mutation (5.7%) and two cases of a newly identified T14727C mutation (3.9%) were detected.
  • The A3243G mutation was found to be heteroplasmic, while T14727C was confirmed as a hereditary mutation inherited from the mother.

Article Abstract

Vietnamese patients (106) tentatively diagnosed with encephalomyopathy were screened for the presence of 15 common point mutations in mitochondria using PCR-RFLP. The screened mutations include A3243G, T3271C and T3291C for Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-like episodes (MELAS); A8344G and T8356C for Myoclonus Epilepsy and Rag-Red Fibers (MERRF); G11778A, G3460A and T14484C for Leber's Hereditary Optic Neuropathy (LHON); T8993G/C and T9176G for Leigh syndrome; A1555G for deafness syndrome; G4298A, T10010C, T14728C and T14709C for neuromuscular syndrome. As a result, 6 cases of A3243G (5.7%) and 2 cases of T14727C (3.9%) were found. The 6 cases of A3243G mutation were heteroplasmic at different levels (4.23-80.85%). The T14727C change was discovered for the first time in the MTTE gene encoding for tRNA(Glu) and showed homoplasmy. The T14727C change was probably a mutation because it was further confirmed as vertically inherited from the mother and not the result of isolated polymorphism.

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Source
http://dx.doi.org/10.3109/19401736.2014.900665DOI Listing

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