Life and death of sensory hair cells expressing constitutively active TRPML3

J Biol Chem. 2009 May 15;284(20):13823-13831. doi: 10.1074/jbc.M809045200. Epub 2009 Mar 19.

Abstract

The varitint-waddler mutation A419P renders TRPML3 constitutively active, resulting in cationic overload, particularly in sustained influx of Ca(2+). TRPML3 is expressed by inner ear sensory hair cells, and we were intrigued by the fact that hair cells are able to cope with expressing the TRPML3(A419P) isoform for weeks before they ultimately die. We hypothesized that the survival of varitint-waddler hair cells is linked to their ability to deal with Ca(2+) loads due to the abundance of plasma membrane calcium ATPases (PMCAs). Here, we show that PMCA2 significantly reduced [Ca(2+)](i) increase and apoptosis in HEK293 cells expressing TRPML3(A419P). The deaf-waddler isoform of PMCA2, operating at 30% efficacy, showed a significantly decreased ability to rescue the Ca(2+) loading of cells expressing TRPML3(A419P). When we combined mice heterozygous for the varitint-waddler mutant allele with mice heterozygous for the deaf-waddler mutant allele, we found severe hair bundle defects as well as increased hair cell loss compared with mice heterozygous for each mutant allele alone. Furthermore, 3-week-old double mutant mice lacked auditory brainstem responses, which were present in their respective littermates containing single mutant alleles. Likewise, heterozygous double mutant mice exhibited severe circling behavior, which was not observed in mice heterozygous for TRPML3(A419P) or PMCA2(G283S) alone. Our results provide a molecular rationale for the delayed hair cell loss in varitint-waddler mice. They also show that hair cells are able to survive for weeks with sustained Ca(2+) loading, which implies that Ca(2+) loading is an unlikely primary cause of hair cell death in ototoxic stress situations.

Publication types

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

MeSH terms

  • Animals
  • Apoptosis*
  • Behavior, Animal
  • Calcium / metabolism*
  • Gene Expression
  • Gene Expression Regulation / genetics
  • Hair Cells, Auditory, Inner / metabolism*
  • HeLa Cells
  • Humans
  • Mice
  • Mice, Mutant Strains
  • Mutation
  • NIH 3T3 Cells
  • Organ Specificity / genetics
  • Plasma Membrane Calcium-Transporting ATPases / genetics
  • Plasma Membrane Calcium-Transporting ATPases / metabolism*
  • Protein Isoforms / genetics
  • Protein Isoforms / metabolism
  • Transient Receptor Potential Channels / genetics
  • Transient Receptor Potential Channels / metabolism*

Substances

  • MCOLN3 protein, human
  • Protein Isoforms
  • Transient Receptor Potential Channels
  • Plasma Membrane Calcium-Transporting ATPases
  • ATP2B2 protein, human
  • Atp2b2 protein, mouse
  • Calcium