| Full text | |
| Author(s): |
Tomczyk, Marta
[1]
;
Glaser, Talita
[2]
;
Slominska, Ewa M.
[1]
;
Ulrich, Henning
[2]
;
Smolenski, Ryszard T.
[1]
Total Authors: 5
|
| Affiliation: | [1] Med Univ Gdansk, Dept Biochem, PL-80210 Gdansk - Poland
[2] Univ Sao Paulo, Inst Chem, Dept Biochem, BR-05508000 Sao Paulo - Brazil
Total Affiliations: 2
|
| Document type: | Review article |
| Source: | INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES; v. 22, n. 12 JUN 2021. |
| Web of Science Citations: | 0 |
| Abstract | |
Huntington's disease (HD) is a multi-system disorder that is caused by expanded CAG repeats within the exon-1 of the huntingtin (HTT) gene that translate to the polyglutamine stretch in the HTT protein. HTT interacts with the proteins involved in gene transcription, endocytosis, and metabolism. HTT may also directly or indirectly affect purine metabolism and signaling. We aimed to review existing data and discuss the modulation of the purinergic system as a new therapeutic target in HD. Impaired intracellular nucleotide metabolism in the HD affected system (CNS, skeletal muscle and heart) may lead to extracellular accumulation of purine metabolites, its unusual catabolism, and modulation of purinergic signaling. The mechanisms of observed changes might be different in affected systems. Based on collected findings, compounds leading to purine and ATP pool reconstruction as well as purinergic receptor activity modulators, i.e., P2X7 receptor antagonists, may be applied for HD treatment. (AU) | |
| FAPESP's process: | 18/07366-4 - Purine and kinin receptors as targets of study and therapeutic interventions in neurological diseases |
| Grantee: | Alexander Henning Ulrich |
| Support Opportunities: | Research Projects - Thematic Grants |