Research progress on the cognitive deficit of Down syndrome patients
10.3760/cma.j.cn511374-20240624-00350
- VernacularTitle:唐氏综合征患者认知功能障碍的研究进展
- Author:
Weili SHI
1
;
Shixiu LIAO
Author Information
1. 河南省人民医院 郑州大学人民医院 河南省医学遗传研究所 河南省遗传性疾病功能基因组重点实验室，郑州 450003
- Publication Type:Journal Article
- Keywords:
Down syndrome;
Cognitive dysfunction;
NRIP1;
DYRK1A
- From:
Chinese Journal of Medical Genetics
2024;41(12):1503-1507
- CountryChina
- Language:Chinese
-
Abstract:
As the most common chromosomal disorder compatible to life, Down syndrome (DS) is caused by an extra copy of chromosome 21. Almost all DS patients have cognitive dysfunction. Therefore, it is important to study the underlying pathogenetic mechanism to elucidate its molecular basis. This article has provided a review for the molecular mechanisms of NRIP1 and DYRK1A genes, which have been closely associated with the cognitive dysfunctions of DS patients. It has also summarized the research progress on the mechanism of DS and development of new therapeutic strategies based on such studies, with an aim to provide insights into the prevention and treatment for the cognitive dysfunctions in DS patients.
