ArticleInternational journal of clinical and experimental pathology2015
Mitochondrial genetic analysis in a Chinese family suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes and diabetes.
Article in International journal of clinical and experimental pathology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 12 citations in OpenAlex.
- Association of mitochondrial haplogroup H with reduced risk of type 2 Diabetes among Gulf Region Arabs.Frontiers in endocrinology · 2024Article
- Analysis of mitochondrial DNA cytochrome-b (CYB) and ATPase-6 gene mutations in COVID-19 patients.Journal of medical virology · 2022Article
- Whole-exome sequencing reveals a novel mutation of MT-ND5 gene in a mitochondrial cardiomyopathy pedigree: Patients who show biventricular hypertrophy, hyperlactacidemia, pulmonary hypertension, and decreased exercise tolerance.Anatolian journal of cardiology · 2019Article
- MELAS can be psychiatric and neurological.eNeurologicalSci · 2018Article
- Genetic background and phenotypic heterogeneity of MELAS and maternally inherited diabetes and deafness.International journal of clinical and experimental pathology · 2015Article
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To investigate the mitochondrial mutations in patients suffering from both mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) and maternally inherited diabetes. MELAS was confirmed by muscle biopsy performed from the biceps muscle of the proband. Mitochondrial DNA (mtDNA) was isolated from peripheral blood mononuclear cells. The significant mtDNA loci of other 14 family members were further detected according to the sequencing results of the proband. Direct sequencing of PCR products was used to identify the mitochondrial mutations. The proband (III 1) and her brother (III 3) both harbored the tRNALeu (UUR) A3243G mutation, with heteroplasmic levels of 50% and 33% respectively. Moreover, another two mitochondrial variants, A8860G and A15326G, were also detected in the samples of all the family members. MELAS and diabetes can coexist in one patient, and the main cause for these diseases is the tRNALeu (UUR) A3243G mutation. However, other gene variants may contribute to its pathogenesis. This case also supports the concept that both syndromes can be regarded as two phenotypes of the same disease.
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26261593PMC4525927W1197353062What OpenQuestion holds
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