Characterization of a novel MYO3A missense mutation associated with a dominant form of late onset hearing loss

Sci Rep. 2018 Jun 7;8(1):8706. doi: 10.1038/s41598-018-26818-2.

Abstract

Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM_017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation alters a single residue (L697W or p.Leu697Trp) in the motor domain of the stereocilia protein MYO3A, leading to a reduction in ATPase activity, motility, and an increase in actin affinity. MYO3A-L697W showed reduced filopodial actin protrusion initiation in COS7 cells, and a predominant tipward accumulation at filopodia and stereocilia when coexpressed with wild-type MYO3A and espin-1, an actin-regulatory MYO3A cargo. The combined higher actin affinity and duty ratio of the mutant myosin cause increased retention time at stereocilia tips, resulting in the displacement of the wild-type MYO3A protein, which may impact cargo transport, stereocilia length, and mechanotransduction. The dominant negative effect of the altered myosin function explains the dominant inheritance of deafness.

Publication types

  • Clinical Trial
  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Actins / genetics
  • Actins / metabolism
  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Animals
  • Brazil
  • COS Cells
  • Cell Movement / genetics
  • Child
  • Chlorocebus aethiops
  • Female
  • Genes, Dominant*
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Genetic Diseases, Inborn / pathology
  • Hearing Loss / genetics*
  • Hearing Loss / metabolism
  • Hearing Loss / pathology
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Myosin Heavy Chains / genetics*
  • Myosin Heavy Chains / metabolism
  • Myosin Type III / genetics*
  • Myosin Type III / metabolism
  • Pseudopodia / genetics
  • Pseudopodia / metabolism
  • Pseudopodia / pathology
  • Stereocilia / genetics
  • Stereocilia / metabolism
  • Stereocilia / pathology

Substances

  • Actins
  • MYO3A protein, human
  • Myosin Type III
  • Myosin Heavy Chains