A novel C19orf12 frameshift mutation in a MPAN pedigree impairs mitochondrial function and connectivity leading to neurodegeneration

Huan-Yun Chen,Han-I Lin,Chia-Lang Hsu,Pei-Lung Chen,Cheng-Yen Huang,Shu-Chun Teng,Chin-Hsien Lin

Parkinsonism & Related Disorders（2023）

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摘要

•A novel heterozygous variant in C19orf12, c273_274 insA (p.P92Tfs*9), causes MPAN.•The C19orf12 p.P92Tfs*9 variant impairs mitochondrial function and ultrastructure.•The C19orf12 p.P92Tfs*9 variant causes proteinopathy and neuronal apoptosis.

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关键词

frameshift mutation,neurodegeneration,mitochondrial function,mpan pedigree

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