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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
American Journal of Human Genetics, Volume 87, No. 3, Year 2010
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Description
Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) is a neurodegenerative disease marked by early-onset cataract and hearing loss, retinitis pigmentosa, and involvement of both the central and peripheral nervous systems, including demyelinating sensorimotor polyneuropathy and cerebellar ataxia. Previously, we mapped this Refsum-like disorder to a 16 Mb region on chromosome 20. Here we report that mutations in the ABHD12 gene cause PHARC disease and we describe the clinical manifestations in a total of 19 patients from four different countries. The ABHD12 enzyme was recently shown to hydrolyze 2-arachidonoyl glycerol (2-AG), the main endocannabinoid lipid transmitter that acts on cannabinoid receptors CB1 and CB2. Our data therefore represent an example of an inherited disorder related to endocannabinoid metabolism. The endocannabinoid system is involved in a wide range of physiological processes including neurotransmission, mood, appetite, pain appreciation, addiction behavior, and inflammation, and several potential drugs targeting these pathways are in development for clinical applications. Our findings show that ABHD12 performs essential functions in both the central and peripheral nervous systems and the eye. Any future drug-mediated interference with this enzyme should consider the potential risk of long-term adverse effects. © 2010 The American Society of Human Genetics.
Authors & Co-Authors
Fiskerstrand, Torunn
Norway, Bergen
Haukeland Universitetssjukehus
H´mida, Dorra
France, Strasbourg
Université de Strasbourg
Tunisia, Sousse
Hopital Farhat Hached Sousse
Johansson, Stefan Johansson
Norway, Bergen
Haukeland Universitetssjukehus
M'Zahem, Abderrahim
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Haukanes, Bjørn Ivar
Norway, Bergen
Haukeland Universitetssjukehus
Drouot, Nathalie
France, Strasbourg
Université de Strasbourg
Zimmermann, Julian
Germany, Bonn
Universitätsklinikum Bonn
Cole, Andrew J.
United States, Boston
Massachusetts General Hospital
Vedeler, Christian
Norway, Bergen
Haukeland Universitetssjukehus
Norway, Bergen
Universitetet I Bergen
Bredrup, Cecilie
Norway, Bergen
Haukeland Universitetssjukehus
Assoum, Mirna
France, Strasbourg
Université de Strasbourg
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Klockgether, Thomas
Germany, Bonn
Universitätsklinikum Bonn
Germany, Bonn
Deutsches Zentrum Für Neurodegenerative Erkrankungen
Hamri, Abdelmadjid
Algeria, Constantine
Centre Hospitalo-universitaire dr Benbadis Constantine
Steen, Vidar Martin
Norway, Bergen
Haukeland Universitetssjukehus
Norway, Bergen
Universitetet I Bergen
Boman, Helge
Norway, Bergen
Haukeland Universitetssjukehus
Bindoff, Laurence A.
Norway, Bergen
Haukeland Universitetssjukehus
Norway, Bergen
Universitetet I Bergen
Kœnig, Michel
France, Strasbourg
Université de Strasbourg
Knappskog, Per M.
Norway, Bergen
Haukeland Universitetssjukehus
Norway, Bergen
Universitetet I Bergen
Statistics
Citations: 198
Authors: 19
Affiliations: 9
Identifiers
Doi:
10.1016/j.ajhg.2010.08.002
ISSN:
00029297
Research Areas
Disability
Genetics And Genomics
Health System And Policy
Substance Abuse