Clinical heterogeneity in patients with m.4412G > A MT-TM mutation and different heteroplasmy levels

The identification of the m.4412G > A MT-TM (mt-tRNAMet) mutation was first reported in 2019. The affected individual presented with childhood-onset seizures and myopathy and bilateral basal ganglia changes, with heteroplasmy levels in muscle as high as 90%. Here, we describe another adult-onset...

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Bibliographic Details
Published in:Mitochondrion 2021-07, Vol.59, p.214-215
Main Authors: Imai-Okazaki, Atsuko, Yagi, Nobuyasu, Nitta, Kazuhiro R., Murayama, Kei, Ohtake, Akira, Okazaki, Yasushi
Format: Article
Language:English
Subjects:
Age of Onset
Cerebellar Ataxia - genetics
Clinical heterogeneity
Dementia - genetics
Female
Hearing Loss - genetics
Heteroplasmy
Humans
Middle Aged
Mitochondrial disease
Mitochondrial Diseases - genetics
Mitochondrial DNA
Mitochondrial respiratory chain complex deficiencies
Mitochondrial tRNA
Muscular Diseases - genetics
Phenotype
Polymorphism, Single Nucleotide
RNA, Transfer, Met - genetics
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Summary:The identification of the m.4412G > A MT-TM (mt-tRNAMet) mutation was first reported in 2019. The affected individual presented with childhood-onset seizures and myopathy and bilateral basal ganglia changes, with heteroplasmy levels in muscle as high as 90%. Here, we describe another adult-onset patient with the same mutation and additional phenotypes, including hearing impairment, cerebellar ataxia, progressive dementia, and myopathy. The 10% heteroplasmy level observed in skin fibroblasts from this patient are lower than those in the previously reported patient. Our report suggests possible clinical heterogeneity in patients with mitochondrial tRNA mutations based on heteroplasmy levels.
ISSN:1567-7249
1872-8278
DOI:10.1016/j.mito.2021.06.001