1. Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients.
- Author
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Truong, Hue Thi, Nguyen, Van-Anh Thi, Nguyen, Lieu Van, Pham, Van-Anh, and Phan, Tuan-Nghia
- Subjects
POINT mutation (Biology) ,MITOCHONDRIAL DNA abnormalities ,MELAS syndrome ,POLYMERASE chain reaction methodology ,MERRF syndrome ,NEUROMUSCULAR diseases ,TRANSFER RNA genetics ,CHROMOSOME polymorphism - 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 (4.23โ80.85%). The T14727C change was discovered for the first time in the MTTE gene encoding for tRNAGluand 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. [ABSTRACT FROM AUTHOR]
- Published
- 2016
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