. "1211-7579" . . . . "Schizophrenia as a genetic disorder of synaptic connection"@en . "V sou\u010Dasnosti ji\u017E nen\u00ED schizofrenie pova\u017Eov\u00E1na jen za d\u016Fsledek zv\u00FD\u0161en\u00E9 dopaminergn\u00ED signalizace. \u0158ada ned\u00E1vn\u00FDch zji\u0161t\u011Bn\u00ED, v\u010Detn\u011B genetick\u00FDch studi\u00ED, dokl\u00E1d\u00E1 tak\u00E9 v\u00FDznam poru\u0161en\u00E9 glutam\u00E1tergn\u00ED a GABAergn\u00ED neurotransmise. Schizofrenii v\u0161ak nelze zjednodu\u0161en\u011B ozna\u010Dit za d\u011Bdi\u010Dnou poruchu, nebo\u0165 vykazuje tak\u00E9 v\u00FDznamnou podm\u00EDn\u011Bnost faktory prost\u0159ed\u00ED. M\u00E1 ale svou genetickou slo\u017Eku podm\u00EDn\u011Bnou existenc\u00ED \u0159ady tzv. kandid\u00E1tn\u00EDch gen\u016F. V\u011Bt\u0161ina z t\u011Bchto gen\u016F souvis\u00ED se synt\u00E9zou a inaktivac\u00ED glutam\u00E1tu a GABA, s aktivitami t\u011Bchto neuromedi\u00E1tor\u016F na \u00FArovni specifick\u00FDch receptor\u016F a tak\u00E9 se struktur\u00E1ln\u00EDm a funk\u010Dn\u00EDm v\u00FDvojem p\u0159\u00EDslu\u0161n\u00FDch synaptick\u00FDch spojen\u00ED. Liter\u00E1rn\u00ED p\u0159ehled ukazuje na asociaci schizofrenie s v\u00EDce ne\u017E 40 geny, kter\u00E9 se nach\u00E1zej\u00ED na v\u0161ech 23 chromozomech \u010Dlov\u011Bka. Z n\u011Bho je z\u0159ejm\u00E9, \u017Ee s v\u00FDjimkou n\u011Bkolika m\u00E1lo gen\u016F (NRG1 - chromozom 8 nebo DTNBP1 - chromozom 6), v\u011Bt\u0161ina jednonukleotidov\u00FDch polymorfizm\u016F nalezen\u00FDch v kandid\u00E1tn\u00EDch genech je jen slab\u011B, pokud v\u016Fbec, asociov\u00E1na se schizofreni\u00ED ve studi\u00EDch s omezen"@cs . "RIV/00023752:_____/08:00000828!RIV09-MZ0-00023752" . . . "RIV/00023752:_____/08:00000828" . . "Balcar, Vladim\u00EDr Joseph" . "P(1M0517), P(NR8797), P(NR9324), Z(MZ0PCP2005)" . . . "12" . "393871" . "Schizofrenie jako genetick\u00E1 porucha synaptick\u00E9ho spojen\u00ED"@cs . "CZ - \u010Cesk\u00E1 republika" . . . "schizophrenia; candidate genes; DNA methylation; dopaminergic neurotransmission; glutamate receptors; GABAergic inhibition"@en . "Schizophrenia is no longer viewed as predominantly a consequence of overactive dopaminergic signalling. In fact, many recent findings, including those from human genetic studies, strongly support involvement of glutamatergic and GABAergic disturbances. Schizophrenia is not a simply inherited disorder and displays significant dependence on environmental factors, too. Nevetheless, there is a definite genetic component in the morbidity and the existence of so called %22candidate genes%22 has been proposed. Many of the genes are intimately linked to the activities (at specific receptors), synthesis and inactivation of glutamate and GABA as well as to the structural and functional development of glutamatergic and GABAergic synapses. The article reviews evidence of links to schizophrenia for more than forty candidate genes located on all human chromosomes. It concludes, that, with exception of a few, such as NRG1 on chromosome 8 or DTNBP1 on chromosome 6 the associations between mutations in the cand"@en . "V sou\u010Dasnosti ji\u017E nen\u00ED schizofrenie pova\u017Eov\u00E1na jen za d\u016Fsledek zv\u00FD\u0161en\u00E9 dopaminergn\u00ED signalizace. \u0158ada ned\u00E1vn\u00FDch zji\u0161t\u011Bn\u00ED, v\u010Detn\u011B genetick\u00FDch studi\u00ED, dokl\u00E1d\u00E1 tak\u00E9 v\u00FDznam poru\u0161en\u00E9 glutam\u00E1tergn\u00ED a GABAergn\u00ED neurotransmise. Schizofrenii v\u0161ak nelze zjednodu\u0161en\u011B ozna\u010Dit za d\u011Bdi\u010Dnou poruchu, nebo\u0165 vykazuje tak\u00E9 v\u00FDznamnou podm\u00EDn\u011Bnost faktory prost\u0159ed\u00ED. M\u00E1 ale svou genetickou slo\u017Eku podm\u00EDn\u011Bnou existenc\u00ED \u0159ady tzv. kandid\u00E1tn\u00EDch gen\u016F. V\u011Bt\u0161ina z t\u011Bchto gen\u016F souvis\u00ED se synt\u00E9zou a inaktivac\u00ED glutam\u00E1tu a GABA, s aktivitami t\u011Bchto neuromedi\u00E1tor\u016F na \u00FArovni specifick\u00FDch receptor\u016F a tak\u00E9 se struktur\u00E1ln\u00EDm a funk\u010Dn\u00EDm v\u00FDvojem p\u0159\u00EDslu\u0161n\u00FDch synaptick\u00FDch spojen\u00ED. Liter\u00E1rn\u00ED p\u0159ehled ukazuje na asociaci schizofrenie s v\u00EDce ne\u017E 40 geny, kter\u00E9 se nach\u00E1zej\u00ED na v\u0161ech 23 chromozomech \u010Dlov\u011Bka. Z n\u011Bho je z\u0159ejm\u00E9, \u017Ee s v\u00FDjimkou n\u011Bkolika m\u00E1lo gen\u016F (NRG1 - chromozom 8 nebo DTNBP1 - chromozom 6), v\u011Bt\u0161ina jednonukleotidov\u00FDch polymorfizm\u016F nalezen\u00FDch v kandid\u00E1tn\u00EDch genech je jen slab\u011B, pokud v\u016Fbec, asociov\u00E1na se schizofreni\u00ED ve studi\u00EDch s omezen" . . "10"^^ . "Suppl. 2" . . "[78ACFC7B141C]" . . "Schizofrenie jako genetick\u00E1 porucha synaptick\u00E9ho spojen\u00ED"@cs . "\u0160\u0165astn\u00FD, Franti\u0161ek" . . . . . "1"^^ . "Schizophrenia as a genetic disorder of synaptic connection"@en . "Psychiatrie" . "2"^^ . "Schizofrenie jako genetick\u00E1 porucha synaptick\u00E9ho spojen\u00ED" . . . "Schizofrenie jako genetick\u00E1 porucha synaptick\u00E9ho spojen\u00ED" . . .