title: No evidence of CRHR1 gene involvement in progressive supranuclear palsy.
abstract: Several genes have been located in the chromosomal region 17q21 genetically associated with progressive supranuclear palsy (PSP). Corticotropin releasing hormone receptor 1 (CRHR1) is a gene included in this region. In order to investigate the possible involvement of CRHR1 in PSP pathogenesis, we measured the globus pallidus mRNA expression of this gene using real-time PCR in 12 PSP comparing with several control groups composed by 10 Alzheimer's disease, 5 cerebrovascular disease and 6 healthy controls subjects. We furthermore sequenced directly the entire coding region of CRHR1 of two histopathologically confirmed PSP patients. Expression pattern of CRHR1 in globus pallidus was similar in all groups. We did not find any coding non-synonymous mutation in the patients analysed. Our results do not support an involvement of CRHR1 gene in PSP pathogenesis.
authors.affiliation: Parkinson's Disease and Movement Disorders Unit, Neurology Service, Institut Clínic de Neurociencies, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Hospital Clínic Universitari, Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Campdelacreu
authors.forename: Carles
authors.initials: C
authors.lastname: Gaig
authors.forename: Mario
authors.initials: M
authors.lastname: Ezquerra
authors.forename: Esteban
authors.initials: E
authors.lastname: Muñoz
authors.forename: Maria Jose
authors.initials: MJ
authors.lastname: Martí
authors.forename: Francesc
authors.initials: F
authors.lastname: Valldeoriola
authors.forename: Eduardo
authors.initials: E
authors.lastname: Tolosa
mesh_terms: D017668:Age of Onset; D000368:Aged; D004247:DNA / Q000235:genetics; D017931:DNA Primers; D005260:Female; D005787:Gene Frequency; D005917:Globus Pallidus / Q000378:metabolism; D006801:Humans; D008297:Male; D008875:Middle Aged; D011110:Polymorphism, Genetic / Q000502:physiology; D012333:RNA, Messenger / Q000096:biosynthesis / Q000235:genetics; D018019:Receptors, Corticotropin-Releasing Hormone / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018570:Risk Assessment; D013494:Supranuclear Palsy, Progressive / Q000235:genetics* / Q000401:mortality; D000099052:CRF Receptor, Type 1
chemical_list: D017931:DNA Primers; D012333:RNA, Messenger; D018019:Receptors, Corticotropin-Releasing Hormone; D000099052:CRF Receptor, Type 1; D004247:DNA