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Article

The TOMM40 '523' polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson's disease.

Scientific reports - 18 Mar 2021

Bakeberg Megan C, Hoes Madison E, Gorecki Anastazja M, Theunissen Frances, Pfaff Abigail L, Kenna Jade E, Plunkett Kai, Kõks Sulev, Akkari P Anthony, Mastaglia Frank L, Anderton Ryan S

Abstract excerpt

Abnormal mitochondrial function is a key process in the pathogenesis of Parkinson's disease (PD). The central pore-forming protein TOM40 of the mitochondria is encoded by the translocase of outer mitochondrial membrane 40 homologue gene (TOMM40). The highly variant '523' poly-T repeat is associated with age-related cognitive decline and age of onset in Alzheimer's disease, but whether it plays a role in modifying...

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PMID: 33737565
DOI: 10.1038/s41598-021-85510-0
PMCID: PMC7973542

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