Open AccessMitochondrial DNA mutation load in a family with the m.8344A>G point mutation and lipomas: a case study
Author(s) -
Jeppesen Tina Dysgaard,
AlHashimi Noor,
Duno Morten,
Wibrand Flemming,
Andersen Grete,
Vissing John
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.1096
Subject(s) - mutation , point mutation , mitochondrial dna , medicine , genotype , genetics , phenotype , dna , microbiology and biotechnology , biology , gene
Key Clinical Message Studies have shown that difference in mt DNA mutation load among tissues is a result of postnatal modification. We present five family members with the m.8344A>G with variable phenotypes but uniform intrapersonal distribution of mutation load, indicating that there is no postnatal modification of mt DNA mutation load in this genotype.