Open AccessDetection of a new case harboring mitochondrial A3243G mutation of MELAS syndrome
Author(s) -
Phung Bao Khanh,
Nguyen Minh Hoang,
Pham Van Anh,
Lê Ngoc Anh,
Cao Vu Hung,
Phan Tuấn Nghĩa
Publication year - 2017
Publication title -
tạp chí khoa học đại học quốc gia hà nội: khoa học tự nhiên và công nghệ (vnu journal of science:natural sciences and technology)
Language(s) - English
Resource type - Journals
eISSN - 2615-9317
pISSN - 2588-1140
DOI - 10.25073/2588-1140/vnunst.4570
Subject(s) - heteroplasmy , melas syndrome , proband , mitochondrial dna , mutation , genetics , lactic acidosis , mitochondrial encephalomyopathy , biology , medicine , mitochondrial myopathy , gene
Mitochondrial genome A3243G mutation in the tRNALeu(UUR) encodinggene (MTTL)is the main cause of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS). This mutation exists in heteroplasmic form and severity of the disease is affected by many factors including heteroplasmy level.
In this study, a pediatric proband (female, 8 years old) was found to carry A3243G mutation at 77.6% of heteroplasmy by using PCR-RFLP in combination with real-time PCR. The results of the A3243G mutation analysis of the proband’s family showed that her mother without any symptoms of encephalopathyalso carried the mutation at 7.9% of heteroplasmy whereas the mutation was not found in the proband’s healthy father and healthy sister, indicating that the proband received the A3243G mutation from her mother and the expression of MELAS syndromes depended on the level of heteroplasmy.