Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.

Luoma PT, Eerola J, Ahola S, Hakonen AH, Hellström O, Kivistö KT, Tienari PJ, Suomalainen A
Neurology (2007), Volume 69, Page 1152
PubMed entry Publisher's site

Abstract:

Dysfunction of mitochondrial DNA polymerase gamma (POLG) has been ...
Dysfunction of mitochondrial DNA polymerase gamma (POLG) has been recently recognized as an important cause of inherited neurodegenerative diseases. We have reported dominant and recessive inheritance of parkinsonism, mitochondrial myopathy, and premature amenorrhea in five ethnically distinct families with POLG1 mutations. This prompted us to carry out a detailed analysis of the coding region and intron-exon boundaries of POLG1 in Finnish patients with idiopathic sporadic Parkinson disease (PD) and in nonparkinsonian controls.

Polymerases:

Human Pol gamma L392V,Human Pol gamma R722H,Human Pol gamma Y831C,Human Pol gamma Q43R,Human Pol gamma Q49E,Human Pol gamma P241L,Human Pol gamma S1230F

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