Project 462785
FAN1, a DNA repair nuclease, as a modifier of disease-associated repeat instability.
FAN1, a DNA repair nuclease, as a modifier of disease-associated repeat instability.
Project Information
| Study Type: | Unclear |
| Research Theme: | Biomedical |
Institution & Funding
| Principal Investigator(s): | Pearson, Christopher E |
| Institution: | Hospital for Sick Children (Toronto) |
| CIHR Institute: | Genetics |
| Program: | |
| Peer Review Committee: | Genetics |
| Competition Year: | 2022 |
| Term: | 5 yrs 0 mth |
Abstract Summary
Huntington's disease (HD) is caused by mutations in repeated DNAs. If one considers a gene as though it were a sentence such as THE CAT ATE THE FAT RAT, typical mutations would be spelling errors, like THE GAT ATE THE FAT RAT. This mutation would be the same in all family members, all with the same symptoms. In repeat diseases the mutation would be THE CAT ATE THE FAT FAT FAT RAT, and their children would inherit a further mutation; THE CAT ATE THE FAT FAT FAT FAT FAT RAT and have the more severe disease than their parents. These mutations continue in affected tissues as the patient ages. Being able to arrest or reverse this repeat mutation presents a therapeutic pathway to reduce disease progression and severity. This proposal aims to characterize the role of FAN1 and its interaction with its partner protein as a modulator of HD progression and as a possible therapeutic target.
No special research characteristics identified
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