ArticleJournal of Zhejiang University. Science. B2020
Secondary manifestations of mitochondrial disorders.
Article in Journal of Zhejiang University. Science. B, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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Who cites it
3 citing papers in PubMed, 5 citations in OpenAlex.
- A Leigh syndrome caused by compound heterozygous mutations on NDUFAF5 induce early infant death: A case report.Molecular genetics & genomic medicine · 2022Article
- The mining and construction of a knowledge base for gene-disease association in mitochondrial diseases.Scientific reports · 2021Article
- Impact of Mitochondrial DNA Mutations on Carotid Intima-Media Thickness in the Novosibirsk Region.Life (Basel, Switzerland) · 2020Article
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Authors and funding
1 author at 1 institution in 1 country.
Funding
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Abstract
Mitochondrial disorders (MIDs) are a heterogeneous group of genetic metabolic diseases due to mutations in the mitochondrial DNA (mtDNA) or in the nuclear DNA (nDNA) (Rahman and Rahman, 2018). Some affected genes encode proteins with various functions, or structural RNAs such as transfer RNAs (tRNAs) and ribosomal RNAs (rRNAs). MIDs may also be caused by mutations in non-coding regions (e.g., D-loop of mtDNA) (Rahman and Rahman, 2018). Proteins involved in MIDs include enzymes, assembling factors, transport proteins, signaling proteins, pore proteins, and fusion/fission proteins (Gorman et al., 2016). The pathways most frequently affected by mutations in "mitochondrial genes" are the respiratory chain and the oxidative phosphorylation. Dysfunction of many other pathways (e.g., β-oxidation, pyruvate-dehydrogenase complex, and heme synthesis) may also manifest as MIDs (Hu et al., 2019). The estimated prevalence of MIDs is at least 1:5000 (Ng and Turnbull, 2016).
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Registered trials
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