Do metabolic deficits contribute to sleep disruption in monogenic intellectual disability syndromes?

IF 14.6 1区 医学 Q1 NEUROSCIENCES
Trends in Neurosciences Pub Date : 2024-08-01 Epub Date: 2024-07-24 DOI:10.1016/j.tins.2024.06.006
Mariela Lopez Valencia, Folasade A Sofela, Thomas A Jongens, Amita Sehgal
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引用次数: 0

Abstract

Intellectual disability is defined as limitations in cognitive and adaptive behavior that often arise during development. Disordered sleep is common in intellectual disability and, given the importance of sleep for cognitive function, it may contribute to other behavioral phenotypes. Animal models of intellectual disability, in particular of monogenic intellectual disability syndromes (MIDS), recapitulate many disease phenotypes and have been invaluable for linking some of these phenotypes to specific molecular pathways. An emerging feature of MIDS, in both animal models and humans, is the prevalence of metabolic abnormalities, which could be relevant for behavior. Focusing on specific MIDS that have been molecularly characterized, we review sleep, circadian, and metabolic phenotypes in animal models and humans and propose that altered metabolic state contributes to the abnormal sleep/circadian phenotypes in MIDS.

新陈代谢障碍是否会导致单基因智障综合征的睡眠障碍?
智力障碍是指在发育过程中经常出现的认知和适应行为方面的限制。睡眠障碍在智力障碍中很常见,鉴于睡眠对认知功能的重要性,它可能会导致其他行为表型。智力障碍的动物模型,尤其是单基因智力障碍综合征(MIDS)的动物模型,再现了许多疾病的表型,对于将其中一些表型与特定的分子通路联系起来非常有价值。在动物模型和人类中,MIDS 的一个新特征是代谢异常,这可能与行为有关。我们将重点放在已被分子鉴定的特定 MIDS 上,回顾了动物模型和人类的睡眠、昼夜节律和代谢表型,并提出代谢状态的改变是导致 MIDS 睡眠/昼夜节律表型异常的原因之一。
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来源期刊
Trends in Neurosciences
Trends in Neurosciences 医学-神经科学
CiteScore
26.50
自引率
1.30%
发文量
123
审稿时长
6-12 weeks
期刊介绍: For over four decades, Trends in Neurosciences (TINS) has been a prominent source of inspiring reviews and commentaries across all disciplines of neuroscience. TINS is a monthly, peer-reviewed journal, and its articles are curated by the Editor and authored by leading researchers in their respective fields. The journal communicates exciting advances in brain research, serves as a voice for the global neuroscience community, and highlights the contribution of neuroscientific research to medicine and society.
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