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Published on: June 14, 2024
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Novel TRIM32 mutation in sarcotubular myopathy
Chiara Panicucci1, Monica Traverso1, Serena Baratto2
1Pediatric Neurology and Neuromuscular Disorders, Istituto G. Gaslini and University of Genoa, Italy.
Summary
Novel mutations in the TRIM32 gene are linked to Limb-Girdle Muscular Dystrophy 2H and Sarcotubular Myopathy. This study identifies a new TRIM32 mutation, confirming these conditions are related and suggesting genetic testing for TRIM32 in related myopathies.
Area of Science:
- Muscle Biology
- Genetics
- Biochemistry
Background:
- Tripartite motif-containing protein 32 (TRIM32) is an E3 ubiquitin ligase involved in muscle protein homeostasis.
- Mutations in TRIM32 are a known cause of Limb-Girdle Muscular Dystrophy 2H (LGMD2H).
Observation:
- A novel homozygous TRIM32 mutation (c.1781G > A, p.Ser594Asn) was identified in a patient with disto-proximal myopathy.
- The mutation is located in the C-terminal NHL domain, previously associated with Sarcotubular Myopathy (STM).
- Muscle biopsy showed myofibrillar abnormalities, including core-like areas, lobulated and whorled fibers, and vacuoles, with desmin and myotilin accumulation.
Findings:
- The identified TRIM32 mutation in the NHL domain is associated with severe myofibrillar myopathy.
- Histopathological findings are consistent with both STM and Myofibrillar Myopathy.
Implications:
- This study reinforces that Sarcotubular Myopathy and LGMD2H are part of the same disease spectrum.
- TRIM32 mutation analysis should be considered in the genetic diagnosis of patients presenting with Sarcotubular Myopathy and Myofibrillar Myopathy.
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