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.

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 A型和B型尼曼-皮克病(NPD)是由鞘磷脂酶(ASM)缺乏引起的溶酶体储存障碍。A型NPD是一种严重的神经性疾病，统一导致三岁前死亡。相比之下，B型NPD患者的神经系统病变很少或根本没有，通常会存活到青春期晚期或成年。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这种疾病表型的一致特征。初步数据表明，这种疾病的一些专性携带者也表现出这种疾病的表现。因此，这项建议的具体目的是：(1)确定酸性鞘磷脂酶缺乏症专职携带者的血脂谱；(2)对专职携带者进行结构化调查，以收集有关其大家族成员中存在心血管疾病的详细信息；(3)从有遗传风险的家庭成员那里收集DNA样本，并确定他们的携带者状态和血脂状况；以及(4)进行研究，以确定专职携带者是否表现出其他常见的疾病表现，如器官肥大和肺渗透。