Myosin Binding Protein-C Slow Phosphorylation is Altered in Duchenne Dystrophy and Arthrogryposis Myopathy in Fast-Twitch Skeletal Muscles

Sci Rep. 2015 Aug 19:5:13235. doi: 10.1038/srep13235.

Abstract

Myosin Binding Protein-C slow (sMyBP-C), encoded by MYBPC1, comprises a family of regulatory proteins of skeletal muscles that are phosphorylated by PKA and PKC. MYBPC1 missense mutations are linked to the development of Distal Arthrogryposis-1 (DA-1). Although structure-function details for this myopathy are evolving, function is undoubtedly driven by sequence variations and post-translational modifications in sMyBP-C. Herein, we examined the phosphorylation profile of sMyBP-C in mouse and human fast-twitch skeletal muscles. We used Flexor Digitorum Brevis (FDB) isolated from young (~2-months old) and old (~14-months old) wild type and mdx mice, and human Abductor Hallucis (AH) and gastrocnemious muscles carrying the DA-1 mutations. Our results indicate both constitutive and differential phosphorylation of sMyBP-C in aged and diseased muscles. We report a 7-35% reduction in the phosphorylation levels of select sites in old wild type and young or old mdx FDB mouse muscles, compared to young wild type tissue. Similarly, we observe a 30-70% decrease in the phosphorylation levels of all PKA and PKC phospho-sites in the DA-1 AH, but not gastrocnemius, muscle. Overall, our studies show that the phosphorylation pattern of sMyBP-C is differentially regulated in response to age and disease, suggesting that phosphorylation plays important roles in these processes.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adolescent
  • Aging / metabolism
  • Amino Acid Sequence
  • Animals
  • Arthrogryposis / metabolism*
  • Arthrogryposis / pathology
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics
  • Carrier Proteins / metabolism*
  • Child, Preschool
  • Humans
  • Infant
  • Male
  • Mice, Inbred C57BL
  • Mice, Inbred mdx
  • Molecular Sequence Data
  • Muscle Fibers, Fast-Twitch / metabolism*
  • Muscle Fibers, Fast-Twitch / pathology
  • Muscle, Skeletal / metabolism
  • Muscular Dystrophy, Duchenne / metabolism*
  • Muscular Dystrophy, Duchenne / pathology
  • Mutation / genetics
  • Phosphorylation

Substances

  • Carrier Proteins
  • myosin-binding protein C