Identification of unique and shared mitochondrial DNA mutations in neurodegeneration and cancer by single-cell mitochondrial DNA structural variation sequencing (MitoSV-seq).

ABSTRACT:

Background

Point mutations and structural variations (SVs) in mitochondrial DNA (mtDNA) contribute to many neurodegenerative diseases. Technical limitations and heteroplasmy, however, have impeded their identification, preventing these changes from being examined in neurons in healthy and disease states.

Methods

We have developed a high-resolution technique-Mitochondrial DNA Structural Variation Sequencing (MitoSV-seq)-that identifies all types of mtDNA SVs and single-nucleotide variations (SNVs) in single neurons and novel variations that have been undetectable with conventional techniques.

Findings

Using MitoSV-seq, we discovered SVs/SNVs in dopaminergic neurons in the Ifnar1^-/- murine model of Parkinson disease. Further, MitoSV-seq was found to have broa

SUBMITTER: Jaberi E 

PROVIDER: S-EPMC7334819 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature