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• W1976353035 endingPage "19588" @default.
• W1976353035 startingPage "19583" @default.
• W1976353035 abstract "Homozygote varitint-waddler ( Va ) mice, expressing a mutant isoform (A419P) of TRPML3 (mucolipin 3), are profoundly deaf and display vestibular and pigmentation deficiencies, sterility, and perinatal lethality. Here we show that the varitint-waddler isoform of TRPML3 carrying an A419P mutation represents a constitutively active cation channel that can also be identified in native varitint-waddler hair cells as a distinct inwardly rectifying current. We hypothesize that the constitutive activation of TRPML3 occurs as a result of a helix-breaking proline substitution in transmembrane-spanning domain 5 (TM5). A proline substitution scan demonstrated that the inner third of TRPML3's TM5 is highly susceptible to proline-based kinks. Proline substitutions in TM5 of other TRP channels revealed that TRPML1, TRPML2, TRPV5, and TRPV6 display a similar susceptibility at comparable positions, whereas other TRP channels were not affected. We conclude that the molecular basis for deafness in the varitint-waddler mouse is the result of hair cell death caused by constitutive TRPML3 activity. To our knowledge, our study provides the first direct mechanistic link of a mutation in a TRP ion channel with mammalian hearing loss." @default.
• W1976353035 created "2016-06-24" @default.
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• W1976353035 date "2007-12-04" @default.
• W1976353035 modified "2023-10-15" @default.
• W1976353035 title "A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse" @default.
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• W1976353035 doi "https://doi.org/10.1073/pnas.0709846104" @default.
• W1976353035 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/2148332" @default.
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