Lecocytes mutation load declines with age in carriers of the m.3243A>G mutation: A 10-year Prospective Cohort
| Autor: | Knud Bonnet Yderstræde, Mads Thomassen, Anja Lisbeth Frederiksen, Per Heden Andersen, Morten Duno, John Vissing, Jakob Høgild Langdahl, Martin Jakob Larsen, Morten Frost |
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| Rok vydání: | 2018 |
| Předmět: |
Male
0301 basic medicine Mitochondrial encephalomyopathy Heterozygote Longitudinal study Initial sample Physiology DNA Mitochondrial 03 medical and health sciences 0302 clinical medicine Leukocytes MELAS Syndrome Genetics medicine Humans heteroplasmy Prospective Studies M 3243a g Child Prospective cohort study Genetics (clinical) Mitochondrial mutation business.industry High-Throughput Nucleotide Sequencing medicine.disease Heteroplasmy mitochondria Phenotype 030104 developmental biology m.3243A>G Mutation MELAS Mutation (genetic algorithm) Female business 030217 neurology & neurosurgery Follow-Up Studies |
| Zdroj: | Langdahl, J H, Larsen, M, Frost, M, Andersen, P H, Yderstraede, K B, Vissing, J, Dunø, M, Thomassen, M & Frederiksen, A L 2018, ' Lecocytes mutation load declines with age in carriers of the m.3243A >G mutation : A 10-year Prospective Cohort ', Clinical Genetics, vol. 93, no. 4, pp. 925-928 . https://doi.org/10.1111/cge.13201 |
| ISSN: | 0009-9163 |
| DOI: | 10.1111/cge.13201 |
| Popis: | Carriers of the mitochondrial mutation m.3243A>G presents highly variable phenotypes including mitochondrial encephalomyopathy, lactoacidosis and stroke-like episodes (MELAS). We conducted a follow-up study to evaluate changes in leucocyte heteroplasmy and the clinical phenotypes in m.3243A>G carriers. Leucocyte heteroplasmy was determined by next generation sequencing covered by 100 000X reads in 32 individuals with a median follow-up of 10.2 years. Ten-year clinical follow-up is reported in 46 individuals. The annual leucocyte mutation level declined by −0.7 (±0.4) percentage points/year (P G carriers died and clinical symptoms progressed. This longitudinal study shows the decline in leucocyte m.3243A>G heteroplasmy associates with the level of the initial sample. Further, there was a high mortality among carriers. |
| Databáze: | OpenAIRE |
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