Research progress on the cognitive deficit of Down syndrome patients.
10.3760/cma.j.cn511374-20240624-00350
- Author:
Weili SHI
1
,
2
;
Shixiu LIAO
Author Information
1. Henan Provincial Key Laboratory of Genetic Diseases and Functional Genomics, Medical Genetics Institute of Henan Province, Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@
2. com.
- Publication Type:English Abstract
- MeSH:
Down Syndrome/psychology*;
Humans;
Protein-Tyrosine Kinases/genetics*;
Dyrk Kinases;
Protein Serine-Threonine Kinases/genetics*;
Cognition Disorders/etiology*
- 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.
