title: The mammalian degenerin MDEG, an amiloride-sensitive cation channel activated by mutations causing neurodegeneration in Caenorhabditis elegans.
abstract: Mutations of the degenerins (deg-1, mec-4, mec-10) are the major known causes of hereditary neurodegeneration in the nematode Caenorhabditis elegans. We cloned a neuronal degenerin (MDEG) from human and rat brain. MDEG is an amiloride-sensitive cation channel permeable for Na+, K+, and Li+. This channel is activated by the same mutations which cause neurodegeneration in C. elegans. Like the hyperactive C. elegans degenerin mutants, constitutively active mutants of MDEG cause cell death, suggesting that gain of function of this novel neuronal ion channel might be involved in human forms of neurodegeneration.
authors.affiliation: Institut de Pharmacologie Moléculaire et Cellulaire, UPR411 CNRS, Valbonne, France.
authors.forename: R
authors.initials: R
authors.lastname: Waldmann
authors.forename: G
authors.initials: G
authors.lastname: Champigny
authors.forename: N
authors.initials: N
authors.lastname: Voilley
authors.forename: I
authors.initials: I
authors.lastname: Lauritzen
authors.forename: M
authors.initials: M
authors.lastname: Lazdunski
mesh_terms: D062565:Acid Sensing Ion Channels; D000584:Amiloride / Q000494:pharmacology*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D017173:Caenorhabditis elegans / Q000235:genetics*; D002412:Cations; D062626:Degenerin Sodium Channels; D053503:Epithelial Sodium Channels; D006801:Humans; D007473:Ion Channels / Q000187:drug effects* / Q000235:genetics / Q000378:metabolism*; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000235:genetics / Q000378:metabolism*; D009420:Nervous System / Q000473:pathology*; D051381:Rats; D017386:Sequence Homology, Amino Acid
chemical_list: C568424:ASIC2 protein, human; D062565:Acid Sensing Ion Channels; C568425:Asic2 protein, rat; D002412:Cations; D062626:Degenerin Sodium Channels; D053503:Epithelial Sodium Channels; D007473:Ion Channels; D009419:Nerve Tissue Proteins; D000584:Amiloride