Title | Lesch-Nyhan Syndrome: Models, Theories, and Therapies. |
Publication Type | Journal Article |
Year of Publication | 2016 |
Authors | Bell S [1], Kolobova I [2], Crapper L [3], Ernst C [4] |
Journal | Mol Syndromol |
Volume | 7 |
Issue | 6 |
Pagination | 302-311 |
Date Published | 2016 Nov |
ISSN | 1661-8769 |
Abstract | 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. |
DOI | 10.1159/000449296 [5] |
Alternate Journal | Mol Syndromol |
PubMed ID | 27920633 [6] |
PubMed Central ID | PMC5131334 |