Oculopharyngeal muscular dystrophy (OPMD) is a late-onset myopathy caused by the expansion of polyalanine in the PABPN1 gene. Abnormal accumulation of PABPN1 on the inner membrane of mitochondria was detected in mouse and cell models of OPMD. The localization of expanded PABPN1 in mitochondria may be associated with mitochondrial dysfunction.
- Tsukasa Doki
- Satoshi Yamashita
- Yukio Ando
