11月17日的《美国人类遗传学杂志》(American Journal of Human Genetics)刊登了美国爱荷华大学领导的国际研究小组的一项最新研究，研究发现了一种新的基因PRICKLE1可能与大脑功能紊乱性癫痫有关。
癫痫是多种原因引起脑部神经元群阵发性异常放电所致的发作性运动、感觉、意识、精神、植物神经功能异常疾病。研究显示，约有40%的癫痫患者与遗传有关。到目前为止,已明确的单基因遗传性癫痫有7种，多基因遗传性癫痫3种，已明确的癫痫易患基因有70多种。在最新研究中，研究人员通过大量数据的分析和研究，发现一个名为PRICKLE1基因突变与癫痫有一定关系。
研究人员认为，这项研究最令人惊讶之处不仅是因为PRICKLE1基因从来没有被确定与癫痫有关，此外至今人类的任何疾病也没有发现与PRICKLE1基因有关。研究人员下一步将采用动物体基因进行深入的研究，斑马鱼繁殖能力强、胚胎透明、生长速度快以及其基因与人类基因相似性高。同时，研究人员发现斑马鱼含有PRICKLE1基因，将对癫痫的深入研究具有重要价值。（生物谷Bioon.com）
生物谷推荐原始出处：
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.
