Deficient Cardiolipin Remodeling Alters Muscle Fiber Composition and Neuromuscular Connectivity in Barth Syndrome.

ABSTRACT:

Background

Barth syndrome (BTHS) is a rare X-linked mitochondrial disorder caused by mutations in the TAFAZZIN gene, which disrupts cardiolipin (CL) remodeling and mitochondrial function. While cardiac manifestations of BTHS are well characterized, the mechanisms underlying skeletal muscle weakness and fatigability are poorly understood.

Methods

We investigated neuromuscular and mitochondrial alterations in a novel murine model (Taz^PM) carrying a patient-derived D75H point mutation in Tafazzin. This mutation preserves protein abundance but abolishes enzymatic activity. Skeletal muscle function was assessed via weightlifting and hanging tests. Muscle fiber composition and neuromuscular junction (NMJ) integrity were evaluated using immunofluorescence,

SUBMITTER: Matias C 

PROVIDER: S-EPMC12637427 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature