Abstract:
:Mammalian CLC proteins function as Cl(-) channels or as electrogenic Cl(-)/H(+) exchangers and are present in the plasma membrane and intracellular vesicles. We now show that the ClC-6 protein is almost exclusively expressed in neurons of the central and peripheral nervous systems, with a particularly high expression in dorsal root ganglia. ClC-6 colocalized with markers for late endosomes in neuronal cell bodies. The disruption of ClC-6 in mice reduced their pain sensitivity and caused moderate behavioral abnormalities. Neuronal tissues showed autofluorescence at initial axon segments. At these sites, electron microscopy revealed electron-dense storage material that caused a pathological enlargement of proximal axons. These deposits were positive for several lysosomal proteins and other marker proteins typical for neuronal ceroid lipofuscinosis (NCL), a lysosomal storage disease. However, the lysosomal pH of Clcn6(-/-) neurons appeared normal. CLCN6 is a candidate gene for mild forms of human NCL. Analysis of 75 NCL patients identified ClC-6 amino acid exchanges in two patients but failed to prove a causative role of CLCN6 in that disease.
journal_name
Proc Natl Acad Sci U S Aauthors
Poët M,Kornak U,Schweizer M,Zdebik AA,Scheel O,Hoelter S,Wurst W,Schmitt A,Fuhrmann JC,Planells-Cases R,Mole SE,Hübner CA,Jentsch TJdoi
10.1073/pnas.0606137103subject
Has Abstractpub_date
2006-09-12 00:00:00pages
13854-9issue
37eissn
0027-8424issn
1091-6490pii
0606137103journal_volume
103pub_type
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