DYRK1A 综合征的骨骼健康状况

IF 4.3 3区 材料科学 Q1 ENGINEERING, ELECTRICAL & ELECTRONIC ACS Applied Electronic Materials Pub Date : 2024-09-06 DOI:10.3389/fnins.2024.1462893
Elysabeth D. Otte, Randall J. Roper
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引用次数: 0

摘要

DYRK1A 综合征是由位于人类 21 号染色体(Hsa21)上的 DYRK1A 基因拷贝数减少引起的。DYRK1A 与唐氏综合征(DS)和阿尔茨海默病(AD)等多种遗传疾病的认知表型的形成有关。此外,DYRK1A 在唐氏综合征中的过表达也与这些人骨骼异常表型的形成有关。对 Dyrk1a 剂量失衡(过表达和表达不足)的小鼠模型的分析表明,这些小鼠存在骨骼缺陷和异常。将原本为三体动物的 Dyrk1a 拷贝数正常化可挽救某些骨骼健康参数,而减少原本为优倍体(对照组)动物的 Dyrk1a 拷贝数则会导致骨骼健康测量结果的改变,包括股骨、下颌骨和头骨的骨矿物质密度(BMD)降低。然而,迄今为止,有关 DYRK1A 减少对人类骨骼健康影响的研究还很少,特别是对 DYRK1A 综合征患者的影响。本综述重点介绍了 DYRK1A 综合征患者以及 Dyrk1a 拷贝数减少的小鼠模型的骨骼表型,并提供了因 DYRK1A 拷贝数减少而改变的潜在途径,这些途径可能会影响这些患者的骨骼健康和表型。了解DYRK1A综合征患者体内DYRK1A表达的减少如何影响骨骼健康,可以提高人们对骨骼特征的认识,并有助于开发提高这些患者生活质量的疗法。
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Skeletal health in DYRK1A syndrome
DYRK1A syndrome results from a reduction in copy number of the DYRK1A gene, which resides on human chromosome 21 (Hsa21). DYRK1A has been implicated in the development of cognitive phenotypes associated with many genetic disorders, including Down syndrome (DS) and Alzheimer’s disease (AD). Additionally, overexpression of DYRK1A in DS has been implicated in the development of abnormal skeletal phenotypes in these individuals. Analyses of mouse models with Dyrk1a dosage imbalance (overexpression and underexpression) show skeletal deficits and abnormalities. Normalization of Dyrk1a copy number in an otherwise trisomic animal rescues some skeletal health parameters, and reduction of Dyrk1a copy number in an otherwise euploid (control) animal results in altered skeletal health measurements, including reduced bone mineral density (BMD) in the femur, mandible, and skull. However, little research has been conducted thus far on the implications of DYRK1A reduction on human skeletal health, specifically in individuals with DYRK1A syndrome. This review highlights the skeletal phenotypes of individuals with DYRK1A syndrome, as well as in murine models with reduced Dyrk1a copy number, and provides potential pathways altered by a reduction of DYRK1A copy number, which may impact skeletal health and phenotypes in these individuals. Understanding how decreased expression of DYRK1A in individuals with DYRK1A syndrome impacts bone health may increase awareness of skeletal traits and assist in the development of therapies to improve quality of life for these individuals.
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4.30%
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567
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