A team of Italian researchers has published a new study on SACSIN, the protein involved in ARSACS.
For the first time, the researchers have shown that the HEPN domain of SACSIN can bind to RNA, revealing a previously unknown molecular function of the protein. They also observed that an ARSACS-associated mutation, F4574C, reduces this RNA-binding activity and alters the behaviour and localization of the HEPN domain in cells.
These findings provide new insight into the cellular mechanisms that may be involved in ARSACS and could, over time, contribute to the development of new therapeutic approaches. The authors emphasize, however, that further research is needed to confirm these observations using full-length SACSIN as well as neuronal and animal models.
The study, entitled “The isolated HEPN domain of SACSIN exhibits RNA-binding activity,” has been accepted for publication in Cellular and Molecular Life Sciences.
