Mucopolysaccharidosis typeⅢB:a current review and exploration of the AAV therapy landscape  

作　　者：Courtney J.Rouse Victoria N.Jensen Coy D.Heldermon 

机构地区：[1]Lacerta Therapeutics,Alachua,FL,USA [2]University of Florida College of Medicine,Gainesville,FL,USA

出　　处：《Neural Regeneration Research》2024年第2期355-359,共5页中国神经再生研究（英文版）

基　　金：supported by Sanfilippo Children’s Foundation;Sanfilippo Fundacja;Sanfilippo Initiative;Cure Sanfilippo;Lacerta Therapeutics;NIH/NINDS R01NS102624(to CDH)。

摘　　要：Mucopolysaccharidoses typeⅢB is a rare genetic disorder caused by mutations in the gene that encodes for N-acetyl-alpha-glucosaminidase.This results in the aggregation of heparan sulfate polysaccharides within cell lysosomes that leads to progressive and severe debilitating neurological dysfunction.Current treatment options are expensive,limited,and presently there are no approved cures for mucopolysaccharidoses typeⅢB.Adeno-associated virus gene therapy has significantly advanced the field forward,allowing researchers to successfully design,enhance,and improve potential cures.Our group recently published an effective treatment using a codon-optimized triple mutant adeno-associated virus 8 vector that restores N-acetyl-alpha-glucosaminidase levels,auditory function,and lifespan in the murine model for mucopolysaccharidoses typeⅢB to that seen in healthy mice.Here,we review the current state of the field in relation to the capsid landscape,adeno-associated virus gene therapy and its successes and challenges in the clinic,and how novel adenoassociated virus capsid designs have evolved research in the mucopolysaccharidoses typeⅢB field.

关 键 词：adeno-associated virus central nervous system gene therapy heparan sulfate immune response mucopolysaccharidoses type IIIB N-acetyl-alpha-glucosaminidase newborn screening 

分 类 号：R596.1[医药卫生—内科学]