Assessment of Candidate Loci in Neurological diseases

神经系统疾病候选基因座的评估

• 批准号: 8552529
• 负责人: Andrew Singleton
• 金额: $ 59.21万
• 依托单位: NATIONAL INSTITUTE ON AGING
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8552529
• 关键词: Alzheimer' s Disease; Ataxia; Childhood; Code; Disease; Dystonia; Family; Genes; Genetic; Individual; Methods; Molecular; Motor Neuron Disease; Multiple System Atrophy; Mutation; Parkinson Disease; Patients; Primary Lateral Sclerosis; Process; Publications; Riboflavin; Series; Tunisia; Variant; Work; cohort; exome; insight; nervous system disorder; novel; research study

This year we have performed an assessment of APOE variability in Parkinson's disease, as all previous studies provided somewhat unclear results. This work involved analysis of the common coding variants (epsilon types) in APOE in a very large cohort of PD patients and now provides a clear message regarding APOE and PD. We continue to perform an assessment of candidate loci for recessive ataxia in a series of patients from Tunisia who have ataxia. This work allows us to parse such families into those with known mutations, and those that should be prioritized for further genetic work aimed at finding new genetic causes of disease, and the last year has seen publication of this work, showing that exome sequencing is an efficient method to find such mutations. In addition, this year, we identified the cause of a form of childhood onset motor neuron disease, in the form of mutations in a riboflavin transporter.

今年，我们对帕金森氏症患者的载脂蛋白E可变性进行了评估，因为之前的所有研究都提供了一些不明确的结果。这项工作涉及分析APOE中的常见编码变体(epsilon类型)，在非常大的PD患者队列中，现在提供了关于APOE和PD的明确信息。我们继续对来自突尼斯的一系列患有共济失调的患者进行隐性共济失调候选基因的评估。这项工作使我们能够将这些家族解析为具有已知突变的家族，以及那些应该优先进行旨在发现新的致病基因原因的基因工作的家族，去年发表了这项工作，表明外显子组测序是发现此类突变的有效方法。此外，今年，我们确定了一种儿童起病运动神经元疾病的原因，这种疾病是核黄素转运蛋白突变的形式。