DELINEATION OF THE PHENOTYPE IN CARRIERS OF NIEMANN PICK DISEASE TYPES A & B

尼曼匹克病 A 型携带者表型的描述

• 批准号: 7605290
• 负责人: MARGARET M MCGOVERN
• 金额: $ 0.06万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2008-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7605290
• 关键词: Adolescence; Age-Years; Cardiovascular Diseases; Cessation of life; Classical Niemann-Pick Disease; Computer Retrieval of Information on Scientific Projects Database; DNA; Data; Disease; Dyslipidemias; Family member; Funding; Genetic Risk; Grant; High Density Lipoprotein Cholesterol; Infiltration; Institution; LDL Cholesterol Lipoproteins; Lipids; Lung; Neurologic; Niemann-Pick Diseases; Non-Neuronopathic Type Niemann-Pick Disease; Patients; Phenotype; Research; Research Personnel; Resources; Sampling; Source; Structure; Surveys; United States National Institutes of Health; Visceromegaly; acid sphingomyelinase

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Types A and B Niemann-Pick Disease (NPD) are lysosomal storage disorders resulting from the deficiency of sphinogomyelinase (ASM). Type A NPD is a severe neuronopathic disorder which uniformly leads to death by three years of age. In contrast, patients with Type B NPD have little or no neurologic involvement and often survive into late adolescence or adulthood. Dyslipidemia characterized by elevated total and LDL cholesterol and decresased HDL cholesterol is a consistent feature of the phenotype in this disorder. Preliminary data suggests that some obligate carriers of this disorder also display this disease manifestation. Thus, the specific aims of this proposal are to: (1) determine the lipid profiles in obligate carriers of acid sphingomyelinase deficiency; (2) carry out a structured survey in obligate carriers to collect detailed information about the presence of cardiovascular disease in their extended family members; (3) collect DNA samples from family members at genetic risk of being carriers and determine their carrier status and lipid profiles; and (4) conduct studies to determine if obligate carriers display other common disease manifestation such as organomegaly and pulmonary infiltration.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目及 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 A 型和 B 型尼曼匹克病 (NPD) 是由鞘磷脂酶 (ASM) 缺乏引起的溶酶体贮积症。 A 型 NPD 是一种严重的神经病性疾病，通常会导致三岁时死亡。 相比之下，B 型 NPD 患者很少或没有神经系统受累，并且通常能存活到青春期后期或成年期。 以总胆固醇和低密度脂蛋白胆固醇升高以及高密度脂蛋白胆固醇降低为特征的血脂异常是该疾病表型的一致特征。 初步数据表明，这种疾病的一些必然携带者也表现出这种疾病的表现。 因此，本提案的具体目标是：（1）确定酸性鞘磷脂酶缺乏症专性携带者的脂质谱； (2) 对义务携带者进行结构化调查，收集其大家庭成员是否患有心血管疾病的详细信息； （3）采集有携带者遗传风险的家庭成员的DNA样本，确定其携带者状况和血脂情况； (4) 进行研究以确定专性携带者是否表现出其他常见疾病表现，例如器官肿大和肺部浸润。