A. Kłosowska, Agnieszka Ćwiklińska, A. Kuchta, A. Berlińska, M. Jankowski, J. Wierzba
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引用次数: 0
摘要
唐氏综合症(DS)是最常见的染色体畸变和遗传决定的智力残疾的原因。退行性椎体滑移患者常伴有一些先天性缺陷和慢性疾病,包括早发性痴呆,55岁以上退行性椎体滑移患者中有70%患有早发性痴呆,其临床表现与阿尔茨海默病(AD)相似。退行性痴呆的症状源于21号染色体“关键区域”内过量的遗传物质。“关键区域”包括可能与痴呆风险增加相关的基因,例如APP基因(β淀粉样蛋白前体蛋白),该基因导致β淀粉样蛋白过量产生。对退行性痴呆患者大脑的尸检研究显示,不溶性淀粉样蛋白β (a β)弥漫性沉积,这是AD的一个特征。此外,这些变化在年龄在31岁之间的受试者中也很常见。阿尔茨海默病的病理机制尚未完全阐明,科学家们仍在寻找可能导致这种常见疾病发展的新的危险因素。近年来的研究表明,脂质紊乱,特别是高密度脂蛋白代谢紊乱可能在这一发病过程中起着至关重要的作用。关于DS人群脂质和脂蛋白浓度的研究很多,但目前还没有将这些参数与记忆障碍进行比较的研究,这可能是更好地了解痴呆发病机制的有用模型。
Down syndrome, increased risk of dementia and lipid disturbances.
Down syndrome (DS) is the most common chromosomal aberration and genetically determined cause of intellectual disability. DS patients often present with some congenital defects and chronic diseases, including early onset dementia, which affects 70% of DS patients over 55 years of age and has a clinical presentation similar to Alzheimer disease (AD). The symptoms of DS originate from excessive genetic material within the "critical region" of the 21st chromosome. The "critical region" encompasses genes potentially associated with increase risk of dementia, e.g. the APP gene (amyloid beta precursor protein) which leads to excessive amyloid beta production. Post-mortem studies of DS patients' brains revealed diffuse deposition of the insoluble form of amyloid beta (Aβ), which is a characteristic feature of AD. Moreover, those changes were commonly observed in subjects > 31 years old. The pathomechanisms of AD have not been fully elucidated and scientists are still searching for new risk factors that may contribute to the development of this common illness. Recent research proved that lipid disturbance, especially disorders in the metabolism of HDL (high density lipoprotein) may play a crucial role in this pathogenic process. There are many studies examining lipid and lipoprotein concentration in the DS population, but up to now there are insufficient studies comparing these parameters with memory impairment, which may be a useful model for better understanding of the dementia pathomechanism.