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Series GSE23151 Query DataSets for GSE23151
Status Public on Aug 27, 2010
Title Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism
Organism Homo sapiens
Experiment type SNP genotyping by SNP array
Summary PHARC is a neurodegenerative disease comprising 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 hydrolyse 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 behaviour 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.
Overall design Homozygosity mapping using Affymetrix 250K SNP arrays were performed according to the manufacturer's directions on DNA extracted from peripheral blood samples. This accession number contains the data for families 1-5 plus 7 in the article.

Supplementary files linked below.
The region of interest on chromosome 20 was found using families 1 and 2. The patients in families 3,4 and 5 were then recruited and the patients were homozygous for the same region on chromosome 20 as those in families 1 and 2, showing that all these patients are distantly related. All affected are homozygous for the same mutation. The rest of the chromosomes fall outside the scope of our study.

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism, Fiskerstrand et al. The American Journal of Human Genetics, 26 August 2010
Contributor(s) Fiskerstrand T
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Submission date Jul 26, 2010
Last update date May 17, 2017
Contact name Torunn Fiskerstrand
Phone +4755975481
Fax +4755975479
Organization name Haukeland University Hospital
Department Center for medical genetics and molecular medicine
Street address Jonas Lies vei
City Bergen
ZIP/Postal code 5021
Country Norway
Platforms (1)
GPL3718 [Mapping250K_Nsp] Affymetrix Mapping 250K Nsp SNP Array
Samples (26)
GSM587967 Family 1, affected individual 1.1 (30907)
GSM587968 Family 1, affected individual 1.2 (31264)
GSM587969 Family 1, affected individual 1.3 (30906)
BioProject PRJNA131569

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE23151_Family1_genotypecalls_sorted.txt.gz 719.5 Kb (ftp)(http) TXT
GSE23151_Family1_genotypecalls_sorted.xml.gz 1.1 Mb (ftp)(http) XML
GSE23151_Family2_genotypecalls_sorted.txt.gz 621.0 Kb (ftp)(http) TXT
GSE23151_Family2_genotypecalls_sorted.xml.gz 906.1 Kb (ftp)(http) XML
GSE23151_Family3_genotypecalls_chromosome20_sorted.txt.gz 74.8 Kb (ftp)(http) TXT
GSE23151_Family3_genotypecalls_chromosome20_sorted.xml.gz 106.8 Kb (ftp)(http) XML
GSE23151_Family4_genotypecalls_chromosome20_sorted.txt.gz 74.2 Kb (ftp)(http) TXT
GSE23151_Family4_genotypecalls_chromosome20_sorted.xml.gz 105.6 Kb (ftp)(http) XML
GSE23151_Family5_genotypecalls_chromosome20_sorted.txt.gz 73.7 Kb (ftp)(http) TXT
GSE23151_Family5_genotypecalls_chromosome20_sorted.xml.gz 105.1 Kb (ftp)(http) XML
GSE23151_Family7_genotypecalls_sorted.txt.gz 578.6 Kb (ftp)(http) TXT
GSE23151_Family7_genotypecalls_sorted.xml.gz 785.1 Kb (ftp)(http) XML
GSE23151_RAW.tar 745.1 Mb (http)(custom) TAR (of CEL, CHP)
Processed data included within Sample table
Processed data provided as supplementary file

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