Nonsyndromic Parkinson disease in a family with autosomal dominant optic atrophy due to OPA1 mutations
نویسندگان
چکیده
Many genes implicated in familial Parkinson disease (PD) code for proteins with mitochondrial function. Several of these genes, including PINK1 and PARK2, are involved in mitophagy, a mitochondrial quality control pathway. 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.
منابع مشابه
Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy
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عنوان ژورنال:
دوره 3 شماره
صفحات -
تاریخ انتشار 2017