Research progress in metabolic disorders and molecular mechanism of Alström syndrome
SHEN Xin-yuan
GUO Sheng
Abstract：Alström syndrome is a rare inherited metabolic disease and ciliary disorder caused by mutations in the ALMS1 gene.One of the principal clinical features of patients with Alström syndrome is metabolic dysregulation,which is involved in the dysfunction of several vital organs and systems.The disease is characterized by a number of symptoms,including retinopathy,hearing loss,diabetes mellitus,and obesity,which are strongly associated with abnormal ciliary function and functional impairment of the ALMS1 protein.Currently,studies on metabolic dysregulation in Alström syndrome have focused on energy metabolism,fat metabolism,and glucose metabolism.However,the specific molecular mechanisms remain poorly understood.This article presents a review of the research progress in the characteristics and pathogenesis of metabolic disorders associated with Alström syndrome,with the objective of deepening the understanding of metabolic disorders associated with this disease and providing references for treatment and prevention.
Keywords：Alström syndromemetabolic disorderscilia dysfunctionmolecular mechanisms
Publication Date：2025-03-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 256-260 )