Mitochondrial DNA sequencing in samples of Huntington’s disease patients
Mitochondrial dysfunction is found in the brain and peripheral tissues of Huntington’s disease (HD) patients, which connects many pathological features of HD. In this project, we conducted a large-scale study of mtDNA variations with a sensitive mtDNA-targeted sequencing method called STAMP, at a median coverage of 4000-fold, in lymphoblast and blood samples of HD patients. mtDNA sequence variations and copy numbers were compared between samples from HD patients and healthy control individuals, and were assessed in relation to HD stages, and changes of HD phenotypes in longitudinal samples.
- Type: Other
- Archiver: European Genome-Phenome Archive (EGA)
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|Illumina HiSeq 2500
STAMP: a multiplex sequencing method for simultaneous evaluation of mitochondrial DNA heteroplasmies and content.
NAR Genom Bioinform 2: 2020 lqaa065
Accelerated expansion of pathogenic mitochondrial DNA heteroplasmies in Huntington's disease.
Proc Natl Acad Sci U S A 118: 2021 e2014610118