Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins

Pénisson-Besnier, I.; Degoul, Françoise; Desnuelle, Claude; Dubas, Frédéric; Josi, K.; Émile, Jean-François; Lestienne, Patrick

doi:10.1016/0022-510x(92)90021-c

Cited by 13 publications

(2 citation statements)

References 22 publications

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“…29 Discordant phenotypes due to uneven amount of heteroplasmic mutations were also found in DZ twins with myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) 30 and myoclonic epilepsy with ragged-red fibers (MERRF). 31 However, effects of nuclear genes could not be ruled out in these DZ twin cases.…”

Section: Mitochondrial Dna (Mtdna) Heteroplasmymentioning

confidence: 95%

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

et al. 2005

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Classical twin research focused on differentiating genetic factors from environmental factors by comparing the concordance rate between monozygotic (MZ) and dizygotic twins. On the other hand, recent twin research tries to identify genetic or epigenetic differences between MZ twins discordant for mental disorders. There are a number of reports of MZ twins discordant for genetic disorders caused by genetic or epigenetic differences of known pathogenic genes. In the case of mental disorder research, for which the causative gene has not been established yet, we are trying to identify the 'pathogenic gene' by comprehensive analysis of genetic or epigenetic difference between discordant MZ twins. To date, no compelling evidence suggesting such difference between MZ twins has been reported. However, if the genetic or epigenetic difference responsible for the discordant phenotype is found, it will have impact on the biology of mental disorder, in which few conclusive molecular genetic evidences have been obtained.

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Section: Mitochondrial Dna (Mtdna) Heteroplasmymentioning

confidence: 95%

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

et al. 2005

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“…By contrast, among monozygotic twins harboring a single large-scale mtDNA deletion, one brother harbored a high level of deleted mtDNA in muscle and exhibited ptosis, progressive external ophthalmoplegia, and proximal weakness while his twin brother had scarcely detectable deleted mtDNA molecules and was asymptomatic 28 . Among a set of dizygotic twins carrying the m.8344A > G mutation, one twin carried a high mutation load and was diagnosed with typical myoclonic epilepsy with ragged-red fibers (MERRF) while the other twin showed minimal mutation burden and was asymptomatic 29 .…”

Section: Discussionmentioning

confidence: 99%

Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality

Tranah

Katzman

Lauterjung

et al. 2018

Sci Rep

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Mitochondria contain many copies of a circular DNA molecule (mtDNA), which has been observed as a mixture of normal and mutated states known as heteroplasmy. Elevated heteroplasmy at a single mtDNA site, m.3243A > G, leads to neurologic, sensory, movement, metabolic, and cardiopulmonary impairments. We measured leukocyte mtDNA m.3243A > G heteroplasmy in 789 elderly men and women from the bi-racial, population-based Health, Aging, and Body Composition Study to identify associations with age-related functioning and mortality. Mutation burden for the m.3243A > G ranged from 0–19% and elevated heteroplasmy was associated with reduced strength, cognitive, metabolic, and cardiovascular functioning. Risk of all-cause, dementia and stroke mortality was significantly elevated for participants in the highest tertiles of m.3243A > G heteroplasmy. These results indicate that the accumulation of a rare genetic disease mutation, m.3243A > G, manifests as several aging outcomes and that some diseases of aging may be attributed to the accumulation of mtDNA damage.

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Mitochondrial DNA Mutation Load

DiMauro

2013

JAMA Neurol

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Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins

Cited by 13 publications

References 22 publications

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

Genetic or epigenetic difference causing discordance between monozygotic twins as a clue to molecular basis of mental disorders

Mitochondrial DNA m.3243A > G heteroplasmy affects multiple aging phenotypes and risk of mortality

Mitochondrial DNA Mutation Load

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