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Health Dictionary

Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Syncoilin

Introduction

Syncoilin is a muscle-specific intermediate filament, first isolated as a binding partner to α-dystrobrevin, as determined by a yeast two-hybrid assay.[1]

Later, a yeast two-hybrid method was used to demonstrate that syncoilin is a binding partner of desmin.[2] These binding partners suggest that syncoilin acts as a mechanical “linker” between the sarcomere Z-disk (where desmin is localized) and the dystrophin-associated protein complex (where α-dystrobrevin is localized). However, the specific in vivo functions of syncoilin have not yet been determined.

Abnormally high levels of syncoilin have been shown to be a characteristic of neuromuscular wasting diseases such as desminopathy[3] and muscular dystrophy.[4] Therefore, syncoilin is being explored as a promising marker of neuromuscular disease.

References

References

  1. ↑ Newey SE, Howman EV, Ponting CP, Benson MA, Nawrotzki R, Loh NY, Davies KE, Blake DJ (March 2001). “Syncoilin, a novel member of the intermediate filament superfamily that interacts with alpha-dystrobrevin in skeletal muscle”. J. Biol. Chem. 276 (9): 6645–55. doi:10.1074/jbc.M008305200. PMID 11053421.
  2. ↑ Poon E, Howman EV, Newey SE, Davies KE (February 2002). “Association of syncoilin and desmin: linking intermediate filament proteins to the dystrophin-associated protein complex”. J. Biol. Chem. 277 (5): 3433–9. doi:10.1074/jbc.M105273200. PMID 11694502.
  3. ↑ Howman EV, Sullivan N, Poon EP, Britton JE, Hilton-Jones D, Davies KE (January 2003). “Syncoilin accumulation in two patients with desmin-related myopathy”. Neuromuscul. Disord. 13 (1): 42–8. doi:10.1016/S0960-8966(02)00181-5. PMID 12467731.
  4. ↑ Brown SC, Torelli S, Ugo I, De Biasia F, Howman EV, Poon E, Britton J, Davies KE, Muntoni F (December 2005). “Syncoilin upregulation in muscle of patients with neuromuscular disease”. Muscle Nerve. 32 (6): 715–25. doi:10.1002/mus.20431. PMID 16124004.
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