Article

Mitochondrial DNA heteroplasmy distinguishes disease manifestation in <i>PINK1</i>- and <i>PRKN</i>-linked Parkinson’s disease

2022-05-19

Abstract excerpt

Biallelic mutations in PINK1 and PRKN cause recessively inherited Parkinson’s disease (PD). Though some studies suggest that PINK1 / PRKN monoallelic mutations may not contribute to risk, deep phenotyping assessment showed that PINK1 or PRKN monoallelic pathogenic variants were at a significantly higher rate in PD compared to controls. Given the established role of PINK1 and Parkin in regulating mitochondrial dyna...

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Literature Corpus work: 628a5826-871a-5767-9eb8-6a8b09641e27
DOI: 10.1101/2022.05.17.22275087

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