Study

Exploring the role of mtDNA variation in Multiple Sclerosis in a large cohort of discordant monozygotic twins

Study ID Alternative Stable ID Type
EGAS00001001240 Metagenomics

Study Description

Several lines of evidence indicate that mitochondrial DNA (mtDNA) variants might predispose to multiple sclerosis (MS). We examined this in 49 monozygotic (MZ) twin pairs clinically discordant for MS at study entry. Since the nuclear DNA of MZ twins is identical, our study provides a unique setting to functionally associate unique mtDNA variants and skewed heteroplasmy with MS development. In order to identify mtDNA variants in the twin cohort, we deeply sequenced the mitochondrial genome in blood of all 49 MZ twin pairs using next generation sequencing (Illumina, HiSeq or MiSeq) with an average coverage depth of ~25,000 sequences per base. Heteroplasmic variants were validated using targeted deep sequencing (TDS) (Illumina, MiSeq) in DNA isolated from blood and buccal swabs. In addition, whole blood was also available of 5 additional MS-affected or healthy siblings and 1 dizygotic twin pair discordant for MS, comprising in total 6 non-identical sib pairs. Moreover, all cases were screened for pathogenic mtDNA polymerase gamma (POLG) mutations. The data provides valuable insights in ... (Show More)

Study Datasets 3 datasets.

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Dataset ID Description Technology Samples
EGAD00001002188
Paired-end BAM files of mitochondrial whole genome deep sequencing (mtWGDS) analysis
Illumina HiSeq 2500 105
EGAD00001002189
paired-end BAM files of the sequencing analysis of the mtDNA polymerase gamma (POLG) gene in the MS-affected co-twins
Illumina MiSeq 54
EGAD00001002190
Single-end BAM files of the targeted deep sequencing analysis of several mtDNA candidate regions in blood and buccal-derived DNA of the corresponding twin pairs.
Illumina MiSeq 140

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