Cited by 113Mitochondrial Function and PathologyMetabolism and Genetic DisordersGenomics and Rare Diseases

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A functionally dominant mitochondrial DNA mutation

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Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., Davidson, M. M.·2008·Human Molecular Genetics

DOI 10.1093/hmg/ddn073PMC PMC2900892

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Abstract

Mutations in mitochondrial DNA (mtDNA) tRNA genes can be considered functionally recessive because they result in a clinical or biochemical phenotype only when the percentage of mutant molecules exceeds a critical threshold value, in the range of 70-90%. We report a novel mtDNA mutation that contradicts this rule, since it caused a severe multisystem disorder and respiratory chain (RC) deficiency even at low levels of heteroplasmy. We studied a 13-year-old boy with clinical, radiological and biochemical evidence of a mitochondrial disorder. We detected a novel heteroplasmic C>T mutation at nucleotide 5545 of mtDNA, which was present at unusually low levels (<25%) in affected tissues. The pathogenic threshold for the mutation in cybrids was between 4 and 8%, implying a dominant mechanism of action. The mutation affects the central base of the anticodon triplet of tRNA(Trp) and it may alter the codon specificity of the affected tRNA. These findings introduce the concept of dominance in mitochondrial genetics and pose new diagnostic challenges, because such mutations may easily escape detection. Moreover, similar mutations arising stochastically and accumulating in a minority of mtDNA molecules during the aging process may severely impair RC function in cells.

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Authors: Sacconi, S., Salviati, L., Nishigaki, Y., Walker, W. F., Hernandez-Rosa, E., Trevisson, E., Delplace, S., Desnuelle, C., Shanske, S., Hirano, M., Schon, E. A., Bonilla, E., De Vivo, D. C., DiMauro, S., & Davidson, M. M.
Affiliations: Inserm (FR)
University of Padua (IT)
Columbia University (US)
Corresponding author: Salviati, L.
ORCID: Sacconi, S.
Salviati, L.
Trevisson, E.
Desnuelle, C.
Hirano, M.
Venue: Human Molecular Genetics
Publisher: Oxford University Press (OUP)
Published: 2008-03-04
Volume: 17
Issue: 12
Pages: 1814-1820
ISSN: 0964-6906 (ISSN-L)
1460-2083
DOI: 10.1093/hmg/ddn073
PMC: PMC2900892
OpenAlex: W2150656083
Cited by: 113
References: 28
Citations by year: 2026: 2 · 2025: 6 · 2024: 2 · 2023: 2 · 2022: 3 · 2021: 3 · 2020: 11 · 2019: 2 · 2018: 6 · 2017: 5 · 2016: 8 · 2015: 4 · 2014: 4 · 2013: 6 · 2012: 13
FWCI: 4.90
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Human Molecular Genetics (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
Padua Research Archive (University of Padova) (submittedVersion)
Funders: National Institute of Neurological Disorders and Stroke (P01NS011766)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD32062, R01HD057543, P01HD032062)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Keywords: mitochondrial DNA mutations, heteroplasmy, respiratory chain deficiency, mitochondrial disease, cybrids, codon specificity, multisystem disease
MeSH terms: Adolescent, Base Sequence, DNA, Mitochondrial, Fibroblasts, Humans, Male, Mitochondria, RNA, Transfer, Trp, Protein Biosynthesis, Point Mutation, Muscle, Skeletal, Mitochondrial Diseases

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A functionally dominant mitochondrial DNA mutation

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