Genomics

Dataset Information

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MS-Twin Data Access Committee

ABSTRACT: Data Access Committee EGAC00001000331

PROVIDER: EGAC00001000331 | EGA |

REPOSITORIES: EGA

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Publications

Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.

Souren Nicole Y P NY   Gerdes Lisa A LA   Kümpfel Tania T   Lutsik Pavlo P   Klopstock Thomas T   Hohlfeld Reinhard R   Walter Jörn J  

Human mutation 20160513 8

We examined the debated link between mitochondrial DNA (mtDNA) variation and multiple sclerosis (MS) using 49 monozygotic (MZ) twin pairs clinically discordant for MS, which enables to associate de novo mtDNA variants, skewed heteroplasmy, and mtDNA copy number with MS manifestation. Ultra-deep sequencing of blood-derived mtDNA revealed 25 heteroplasmic variants with potentially pathogenic features in 18 pairs. All variants were pair-specific and had low and/or similar heteroplasmy levels in bot  ...[more]

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