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视知觉障碍 Meares-Irlen 综合征的潜在遗传标志物。

A prospective genetic marker of the visual-perception disorder Meares-Irlen syndrome.

机构信息

Centre for Bioactive Discovery in Health and Ageing, School of Science & Technology, University of New England, Armidale, Australia.

出版信息

Percept Mot Skills. 2012 Jun;114(3):870-82. doi: 10.2466/24.10.11.27.PMS.114.3.870-882.

Abstract

Prior investigations of scotopic sensitivity or Meares-Irlen syndrome have identified several features also found in attention deficit/hyperactivity disorder, chronic fatigue syndrome, and a subtype of dyslexia in which visual recognition is the primary deficit. In particular, anomalies in lipid metabolism, including low essential fatty acid status and decreased serum cholesterol, have been identified in all three disorders. Genetic expression of the transportermolecule apolipoprotein B-100 (APOB) has been correlated with abnormal lipid metabolism, particularly in relation to levels of cholesterol. Cholesterol esters are important carriers of essential fatty acids entering the retina. The APOB gene coding for apolipoprotein B-100 is located on the short arm of Chromosome 2, and closely neighbours a gene (DYX3) known to confer susceptibility to dyslexia. The APOB locus is also recognised as being one of the most highly polymorphic regions of the human genome, and thus provides a promising tool for genetic researchers. In this pilot study, certain allelic variants of the APOB gene were more common in participants diagnosed with Meares-Irlen syndrome than in individuals without the condition. This study appears to be a first in which a condition known to cause reading difficulties has been associated with the APOB gene.

摘要

先前对暗适应敏感性或梅尔斯-欧文综合征的研究发现,几种特征也存在于注意力缺陷/多动障碍、慢性疲劳综合征和一种阅读障碍亚型中,其中视觉识别是主要缺陷。特别是,所有这三种疾病都存在脂质代谢异常,包括必需脂肪酸状态低和血清胆固醇降低。载脂蛋白 B-100(APOB)转运蛋白的基因表达与脂质代谢异常有关,特别是与胆固醇水平有关。胆固醇酯是进入视网膜的必需脂肪酸的重要载体。编码载脂蛋白 B-100 的 APOB 基因位于染色体 2 的短臂上,并且紧邻已知易患阅读障碍的基因(DYX3)。APOB 基因座也被认为是人类基因组中高度多态性的区域之一,因此为遗传研究人员提供了一个很有前途的工具。在这项初步研究中,患有梅尔斯-欧文综合征的参与者中 APOB 基因的某些等位基因变体比没有该病症的个体更为常见。这项研究似乎是首次将已知引起阅读困难的病症与 APOB 基因联系起来。

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