生物谷報道：德國科學家發(fā)現(xiàn)了導致“失讀癥”的基因DCDC2，此項成果有望為該病癥的治療開辟道路。
“失讀癥”患者在文字閱讀和書寫方面有明顯困難,?？茖W家早就認識到該病可能與基因有關,，如今這種基因已被德國國家遺傳研究所的科學家找到,。
科學家分析了１３７名“失讀癥”兒童和他們父母的基因組成，發(fā)現(xiàn)一種被稱為ＤＣＤＣ２的基因會影響胎兒腦部發(fā)育時神經(jīng)細胞的運動,。
科學家表示,，這種基因可能阻礙人腦發(fā)育，從而導致閱讀障礙,。身上存在這種基因的人患“失讀癥”的幾率比其他人高５倍以上,。
數(shù)據(jù)顯示，在德國有大約５００萬人患有“失讀癥”,，其中有５％至１２％的“失讀癥”患者是兒童,。
有關失讀癥的研究,，近一年來有重大突破，自從去年底華人科學家夢海英在PNAS上發(fā)現(xiàn)DCDC2可能與讀寫有關的基因以來,，2006年相關科學家進一步證實與失讀癥相關,。
系列研究相關文章如下：
McGrath LM, Smith SD, Pennington BF.Breakthroughs in the search for dyslexia candidate genes.
Trends Mol Med. 2006 Jun 15; [Epub ahead of print]
Fisher SE, Francks C.Genes, cognition and dyslexia: learning to read the genome.
Trends Cogn Sci. 2006 Jun;10(6):250-7. Epub 2006 May 3.
Schumacher J, Anthoni H, Dahdouh F, Konig IR, Hillmer AM, Kluck N, Manthey M, Plume E, Warnke A, Remschmidt H, Hulsmann J, Cichon S, Lindgren CM, Propping P, Zucchelli M, Ziegler A, Peyrard-Janvid M, Schulte-Korne G, Nothen MM, Kere J.Strong genetic evidence of DCDC2 as a susceptibility gene for dyslexia.
Am J Hum Genet. 2006 Jan;78(1):52-62. Epub 2005 Nov 17.
Meng H, Smith SD, Hager K, Held M, Liu J, Olson RK, Pennington BF, DeFries JC, Gelernter J, O'Reilly-Pol T, Somlo S, Skudlarski P, Shaywitz SE, Shaywitz BA, Marchione K, Wang Y, Paramasivam M, LoTurco JJ, Page GP, Gruen JR.DCDC2 is associated with reading disability and modulates neuronal development in the brain.
Proc Natl Acad Sci U S A. 2005 Nov 22;102(47):17053-8. Epub 2005 Nov 8. Erratum in: Proc Natl Acad Sci U S A. 2005 Dec 20;102(51):18763
Cope N, Harold D, Hill G, Moskvina V, Stevenson J, Holmans P, Owen MJ, O'Donovan MC, Williams J. Strong evidence that KIAA0319 on chromosome 6p is a susceptibility gene for developmental dyslexia.
Am J Hum Genet. 2005 Apr;76(4):581-91. Epub 2005 Feb 16. Erratum in: Am J Hum Genet. 2005 Nov;77(5):898.
有關DCDC2基因的信息見: http://www.genecards.org/cgi-bin/carddisp.pl?gene=DCDC2
Pediatric researchers at Yale School of Medicine have identified a gene on human chromosome 6 called DCDC2, which is linked to dyslexia, a reading disability affecting millions of children and adults.
The researchers also found that a genetic alteration in DCDC2 leads to a disruption in the formation of brain circuits that make it possible to read. This genetic alteration is transmitted within families.
"These promising results now have the potential to lead to improved diagnostic methods to identify dyslexia and deepens understanding of how the reading process works on a molecular level," said lead author Jeffrey R. Gruen, M.D., associate professor in the Pediatrics Department at Yale School of Medicine.
Gruen and co-authors used a statistical approach to study and compare specific DNA markers in 153 dyslexic families. "We now have strong statistical evidence that a large number of dyslexic cases--perhaps as many as 20 percent--are due to the DCDC2 gene," said Gruen. "The genetic alteration on this chromosome is a large deletion of a regulatory region. The gene itself is expressed in reading centers of the brain where it modulates migration of neurons. This very architecture of the brain circuitry is necessary for normal reading."
To facilitate reading, brain circuits need to communicate with each other. In reading disabilities, these circuits are disrupted. In people with dyslexia, compensatory brain circuits are inefficient and they have a hard time learning to read.
Locating this gene provided researchers with part of the reason why dyslexia occurs. Gruen said discovery of the gene and its function will lead to early and more accurate diagnoses and more effective educational programs to address the unique needs and special talents of people with dyslexia.
"We can't continue the cookie cutter, one-size-fits-all schooling anymore," said Gruen. "People with dyslexia are not less intelligent than others, they just learn in different ways. Tailoring programs to fit the needs of these children will enhance their success in school and be more cost effective."
Other authors on the study were Shelley D. Smith, Karl Hager, Matthew Held, Jonathan Liu, Richard K. Olson, Bruce F. Pennington, John C. DeFries, Joel Gelernter, Thomas O'Reilly-Pol, Stefan Somlo, Pawel Skudlarski, Sally E. Shaywitz, Bennett A. Shaywitz, Karen Marchione, Yu Wang, Murugan Parmasivam, Joseph J. LoTurco and Grier P. Page.
