Deficient Cardiolipin Remodelling Alters Muscle Fibre Composition and Neuromuscular Connectivity in Barth Syndrome
Whole-body deficiency of tafazzin enzymatic activity, as occurs in BTHS, is sufficient to result in widespread neuromuscular remodelling, including fibre size/type shifts, motor unit loss, NMJ dysregulation and stress pathway activation, without overt energetic failure at rest. These findings suggest that myopathy in BTHS arises not solely from mitochondrial ATP insufficiency but rather from cumulative structural and signalling adaptations.
Authors
- Paige Snider
- Elizabeth A. Sierra Potchanant (ORCID: https://orcid.org/0000-0003-0040-5916)
- Michael T. Chin (ORCID: https://orcid.org/0000-0003-3065-8498)
- Joshua R. Huot (ORCID: https://orcid.org/0000-0002-8632-5791)
- Simon J. Conway (ORCID: https://orcid.org/0000-0001-5593-9259)
- Jeffrey J. Brault (ORCID: https://orcid.org/0000-0003-3503-0528)
- Rahul Raghav (ORCID: https://orcid.org/0000-0001-8288-7992)
- Catalina Matias
Institutions
- Indiana University Health (US)
- Tufts Medical Center (US)
- Indiana University School of Medicine
- Indiana University – Purdue University Indianapolis (US)
Publication Details
- Journal
- Journal of Cachexia Sarcopenia and Muscle
- Published
- 2026-03-17
- DOI
- https://doi.org/10.1002/jcsm.70246
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00