11月17日的《美國人類遺傳學雜志》(American Journal of Human Genetics)刊登了美國愛荷華大學領導的國際研究小組的一項最新研究，研究發(fā)現(xiàn)了一種新的基因PRICKLE1可能與大腦功能紊亂性癲癇有關,。
癲癇是多種原因引起腦部神經(jīng)元群陣發(fā)性異常放電所致的發(fā)作性運動,、感覺,、意識,、精神,、植物神經(jīng)功能異常疾病,。研究顯示,，約有40%的癲癇患者與遺傳有關,。到目前為止,已明確的單基因遺傳性癲癇有7種,，多基因遺傳性癲癇3種,，已明確的癲癇易患基因有70多種,。在最新研究中,，研究人員通過大量數(shù)據(jù)的分析和研究，發(fā)現(xiàn)一個名為PRICKLE1基因突變與癲癇有一定關系,。
研究人員認為,，這項研究最令人驚訝之處不僅是因為PRICKLE1基因從來沒有被確定與癲癇有關，此外至今人類的任何疾病也沒有發(fā)現(xiàn)與PRICKLE1基因有關,。研究人員下一步將采用動物體基因進行深入的研究,，斑馬魚繁殖能力強、胚胎透明,、生長速度快以及其基因與人類基因相似性高,。同時，研究人員發(fā)現(xiàn)斑馬魚含有PRICKLE1基因,，將對癲癇的深入研究具有重要價值,。（生物谷Bioon.com）
生物谷推薦原始出處：
American Journal of Human Genetics，doi:10.1016/j.ajhg.2008.10.003,，Alexander G. Bassuk, Samuel F. Berkovic, Hatem I. El-Shanti
A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Alexander G. Bassuk1, 2, 3, Robyn H. Wallace7, Aimee Buhr2, Andrew R. Buller1, Zaid Afawi8, Masahito Shimojo9, Shingo Miyata10, Shan Chen1, Pedro Gonzalez-Alegre4, Hilary L. Griesbach5, Shu Wu1, Marcus Nashelsky6, Eszter K. Vladar11, 12, Dragana Antic11, 12, Polly J. Ferguson1, Sebahattin Cirak16, Thomas Voit17, Matthew P. Scott12, 13, 14, 15, Jeffrey D. Axelrod11, Christina Gurnett18, Azhar S. Daoud19, Sara Kivity20, Miriam Y. Neufeld8, Aziz Mazarib22, Rachel Straussberg21, Simri Walid23, Amos D. Korczyn24, Diane C. Slusarski5, Samuel F. Berkovic25, , and Hatem I. El-Shanti1, 2, 26
1Department of Pediatrics, University of Iowa, Iowa City, IA 52242, USA
2Graduate Program in Genetics, University of Iowa, Iowa City, IA 52242, USA
3Graduate Program in Neuroscience, University of Iowa, Iowa City, IA 52242, USA
4Department of Neurology, University of Iowa, Iowa City, IA 52242, USA
5Department of Biology, University of Iowa, Iowa City, IA 52242, USA
6Department of Pathology, University of Iowa, Iowa City, IA 52242, USA
7Queensland Brain Institute, The University of Queensland, Brisbane 4072, Australia
8Department of Neurology, Tel Aviv Sourasky Medical Center and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv 64239, Israel
9Department of Molecular and Cellular Biochemistry, University of Kentucky, Louisville, KY 40536, USA
10Department of Anatomy & Neuroscience, Graduate School of Medicine, Osaka University, Osaka 565-0871, Japan
11Department of Pathology, Stanford University School of Medicine, Stanford, CA 94305, USA
12Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA 94305, USA
13Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA
14Department of Bioengineering, Stanford University School of Medicine, Stanford, CA 94305, USA
15Howard Hughes Medical Institute, Stanford University School of Medicine, Stanford, CA 94305, USA
16Universit?tskinderklinik Essen, Abteilung für Allgemeine P?diatrie mit Schwerpunkt Neurop?diatrie, 45122 Essen, Germany
17Institut de Myologie Groupe Hospitalier Pitié-Salpêtrière, 75013 Paris, France
18Department of Neurology, Division Pediatric Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA
19Department of Pediatrics, Jordan University of Science and Technology, Irbid 22110, Jordan
20Epilepsy Unit, Schneider Children's Medical Center of Israel, Petach Tikvah 49202, Israel
21Department of Child Neurology, Schneider Children's Medical Center of Israel, Petach Tikvah 49202, Israel
22Kupat Holim Clalit, Nazareth 16000, Israel
23Department of Neurology, Western Galilee Hospital, Nahariya 22100, Israel
24Sieratzki Chair of Neurology, Tel Aviv University, Ramat Aviv 69978, Israel
25Epilepsy Research Centre and Department of Medicine, University of Melbourne (Austin Health), Heidelberg West, Victoria 3161, Australia
26Shafallah Medical Genetics Center, Doha, Qatar
Received 19 August 2008; revised 28 September 2008; accepted 3 October 2008. Published online: October 30, 2008. Available online 30 October 2008.
Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in PRICKLE1 (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees. The identified PRICKLE1 mutation blocks the PRICKLE1 and REST interaction in vitro and disrupts the normal function of PRICKLE1 in an in vivo zebrafish overexpression system. PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.
