Lesch-Nyhan Syndrome: Models, Theories, and Therapies

Molecular syndromology

Scott Bell¹ 

关键词: Lesch-Nyhan syndrome;    Models;    Theories;    Therapies;   

DOI  :  10.1159/000449296

学科分类：基础医学

来源: S Karger AG

【 摘 要 】

Lesch-Nyhan syndrome (LNS) is a rare X-linked disorder caused by mutations in HPRT1, an important enzyme in the purine salvage pathway. Symptoms of LNS include dystonia, gout, intellectual disability, and self-mutilation. Despite having been characterized over 50 years ago, it remains unclear precisely how deficits in hypoxanthine and guanine recycling can lead to such a profound neurological phenotype. Several studies have proposed different hypotheses regarding the etiology of this disease, and several treatments have been tried in patients, though none have led to a satisfactory explanation of the disease. New technologies such as next-generation sequencing, optogenetics, genome editing, and induced pluripotent stem cells provide a unique opportunity to map the precise sequential pathways leading from genotype to phenotype.

【 授权许可】

CC BY