posted on 2019-08-23, 15:00authored byDS Lynch, SH Loh, J Harley, AJ Noyce, LM Martins, NW Wood, H Houlden, H Plun-Favreau
Many genes implicated in familial Parkinson disease
(PD) code for proteins with mitochondrial function.1
Several of these genes, including PINK1 and PARK2,
are involved in mitophagy, a mitochondrial quality
control pathway.2 We describe a family with 3 members affected by autosomal dominant optic atrophy in
which 2 affected members also developed PD.
While the role of mitophagy-related genes in PD is
well established, this report provides further evidence
of PD risk conferred through abnormal mitochondrial fusion and cristae morphology.
Funding
Leonard Wolfson Experimental Neurology Centre, the Medical Research Council, and the Wellcome Trust.
History
Citation
Neurology Genetics, 2017, 3 (5), pp. e188-e188
Author affiliation
/Organisation/COLLEGE OF LIFE SCIENCES/Biological Sciences/Molecular & Cell Biology