Le Centre de recherche Douglas
Published on Le Centre de recherche Douglas (https://douglas.research.mcgill.ca)

Accueil > Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

Lesch-Nyhan Syndrome: Models, Theories, and Therapies.

TitleLesch-Nyhan Syndrome: Models, Theories, and Therapies.
Publication TypeJournal Article
Year of Publication2016
AuthorsBell S [1], Kolobova I [2], Crapper L [3], Ernst C [4]
JournalMol Syndromol
Volume7
Issue6
Pagination302-311
Date Published2016 Nov
ISSN1661-8769
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.

DOI10.1159/000449296 [5]
Alternate JournalMol Syndromol
PubMed ID27920633 [6]
PubMed Central IDPMC5131334

Source URL: https://douglas.research.mcgill.ca/fr/lesch-nyhan-syndrome-models-theories-and-therapies

Links
[1] https://douglas.research.mcgill.ca/fr/publications?f%5Bauthor%5D=6986
[2] https://douglas.research.mcgill.ca/fr/publications?f%5Bauthor%5D=6988
[3] https://douglas.research.mcgill.ca/fr/publications?f%5Bauthor%5D=3224
[4] https://douglas.research.mcgill.ca/fr/publications?f%5Bauthor%5D=4430
[5] http://dx.doi.org/10.1159/000449296
[6] https://www.ncbi.nlm.nih.gov/pubmed/27920633?dopt=Abstract