Methods and pharmaceutical compositions for the treatment of neurodegeneration with brain iron accumulation
US10874637B2 · kind B2 · utility
Assignees
Inventors
Key dates
| Filing date | Dec 19, 2017 |
| Grant date | Dec 29, 2020 |
| Priority date | — |
| Expiry date | Dec 19, 2037 |
Classification
- Technology area (CPC A)Human Necessities
- CPC primaryA61P25/28
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
Abstract
The present invention relates to methods and pharmaceutical compositions for the treatment of neurodegeneration in with brain iron accumulation (NBIA). Studying two novel genes, namely, CRAT encoding the carnitine acetyltransferase and REPS1 involved in endocytosis and vesicle transport, and a series of known NBIA genes, the inventors reported on iron overload related to increased levels and abnormal recycling of transferrin receptor as a common feature in NBIA. They ascribe this anomaly, at least in part, to impaired palmitoylation of the receptor as a common consequence of the various disease causing mutations. Finally, the inventors show that Artesunate improved TfR1 palmitoylation in NBIA fibroblasts. In particular, the present invention relates to a method of treating neurodegeneration with brain iron accumulation in a subject in need thereof comprising administering to the subject a therapeutically effective amount of a drug increasing TfR1 palmitoylation.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.