The first concurrent detection of mitochondrial DNA m.3243A>G mutation, deletion, and depletion in a family with mitochondrial diabetes
Sign Up to like & getrecommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1292
Abstract: Mitochondrial diabetes (MD) is a rare monogenic form of diabetes and divided into type l and type 2. It is characterized by a strong familial clustering of diabetes with the presence of maternal transmission in… read more here.
Keywords: mitochondrial diabetes; deletion depletion; 3243a mutation;
Heteroplasmy and phenotype spectrum of the mitochondrial tRNALeu (UUR) gene m.3243A>G mutation in seven Han Chinese families
Sign Up to like & getrecommendations! Published in 2020 at "Journal of the Neurological Sciences"
DOI: 10.1016/j.jns.2019.116562
Abstract: The m.3243A > G mutation in the mitochondrial tRNALeu (UUR) gene is associated with a variety of phenotypic heterogeneity. The clinical spectrum and phenotypic-genotypic correlations in the Chinese patients are poorly understood. In the present study, we… read more here.
Keywords: mutation; mitochondrial trnaleu; seven han; trnaleu uur ... See more keywords
Molecular biomarkers correlate with brain grey and white matter changes in patients with mitochondrial m.3243A > G mutation.
Sign Up to like & getrecommendations! Published in 2021 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2021.11.012
Abstract: INTRODUCTION The mitochondrial DNA (mtDNA) m.3243A > G mutation in the MT-TL1 gene results in a multi-systemic disease, that is commonly associated with neurodegenerative changes in the brain. METHODS Seventeen patients harboring the m3243A > G mutation were enrolled… read more here.
Keywords: white matter; mutation; 3243a mutation; brain ... See more keywords
Fear of disease progression in carriers of the m.3243A > G mutation
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DOI: 10.1186/s13023-018-0951-y
Abstract: BackgroundBeing diagnosed with mitochondrial disease due to the m.3243A > G mutation is frequently preceded by a long diagnostic process. The disease itself is characterized by heterogeneous course and expression, so leaving patients with considerable uncertainty regarding… read more here.
Keywords: progression; 3243a mutation; fear progression; disease ... See more keywords
Pathogenic mitochondrial DNA 3243A>G mutation: From genetics to phenotype
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.951185
Abstract: The mitochondrial DNA (mtDNA) m.3243A>G mutation is one of the most common pathogenic mtDNA variants, showing complex genetics, pathogenic molecular mechanisms, and phenotypes. In recent years, the prevention of mtDNA-related diseases has trended toward precision… read more here.
Keywords: 3243a mutation; mitochondrial dna; genetics phenotype; mutation genetics ... See more keywords