Cited by 237Mitochondrial Function and PathologyMetabolism and Genetic DisordersGenomics and Rare Diseases

Decrease of 3243 A–>G mtDNA mutation from blood in MELAS syndrome: a longitudinal study

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Rahman, S., Poulton, J., Marchington, D., Suomalainen, A.·2001·The American Journal of Human Genetics

Abstract

It is widely held that changes in the distribution of mutant mtDNAs underlie the progressive nature of mtDNA diseases, but there are few data documenting such changes. We compared the levels of 3243 A-->G mutant mtDNA in blood at birth from Guthrie cards and at the time of diagnosis in a blood DNA sample from patients with mitochondrial encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome. Paired blood DNA samples separated by 9-19 years were obtained from six patients with MELAS. Quantification of mutant load, by means of a solid-phase minisequencing technique, demonstrated a decline (range 12%-29%) in the proportion of mutant mtDNA in all cases (P=.0015, paired t-test). These results suggest that mutant mtDNA is slowly selected from rapidly dividing blood cells in MELAS.

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Crossref · 10.1086/316930

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  • An average annual 1% decrease in m.3243A>G mutation levels in blood has been described.

    “For example, an average annual 1% decrease in m.3243A N G mutation levels in blood has been described [63].”

    From Mitochondrial DNA mutations and human disease (2010) · cites this paper as [63]

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Authors
Rahman, S., Poulton, J., Marchington, D., & Suomalainen, A.
Affiliations
John Radcliffe Hospital (GB)
Corresponding author
Poulton, J.
Venue
The American Journal of Human Genetics
Publisher
Elsevier BV
Published
2001-01
Volume
68
Issue
1
Pages
238-240
ISSN
0002-9297 (ISSN-L)
OpenAlex
W1994003350
Cited by
237
References
20
Citations by year
2026: 7 · 2025: 6 · 2024: 10 · 2023: 10 · 2022: 5 · 2021: 12 · 2020: 13 · 2019: 14 · 2018: 14 · 2017: 10 · 2016: 8 · 2015: 8 · 2014: 15 · 2013: 8 · 2012: 13
FWCI
3.14
Type
journal article
Language
en
Open access
Locations
  • The American Journal of Human Genetics (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
  • UCL Discovery (University College London) (submittedVersion)
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
MELAS, mitochondrial DNA, blood, mitochondrial encephalopathy, lactic acidosis
MeSH terms
Adolescent, Adult, Child, DNA Mutational Analysis, DNA, Mitochondrial, Humans, Infant, Newborn, Longitudinal Studies, Mutation, Time Factors, MELAS Syndrome, Sequence Analysis, DNA

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