CCDC78: Unveiling the Function of a Novel Gene Associated with Hereditary Myopathy.

ABSTRACT: CCDC78 was identified as a novel candidate gene for autosomal dominant centronuclear myopathy-4 (CNM4) approximately ten years ago. However, to date, only one family has been described, and the function of CCDC78 remains unclear. Here, we analyze for the first time a family harboring a CCDC78 nonsense mutation to better understand the role of CCDC78 in muscle.

Methods

We conducted a comprehensive histopathological analysis on muscle biopsies, including immunofluorescent assays to detect multiple sarcoplasmic proteins. We examined CCDC78 transcripts and protein using WB in CCDC78-mutated muscle tissue; these analyses were also performed on muscle, lymphocytes, and fibroblasts from healthy subjects. Subsequently, we conducted RT-qPCR and transcriptome profi

SUBMITTER: Lopergolo D 

PROVIDER: S-EPMC11394131 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature