News

Way of Identifying What Protects Frataxin May Help in Slowing FA

Levels of the protein frataxin, which are abnormally low in people with Friedreich’s ataxia (FA), are further reduced by excess iron and increased protein degradation, a study found. Screening approved compounds in a yeast model identified those that prevented this additional frataxin loss in cells isolated from a patient,…

Smoothened Agonist May Normalize Defects in Brain Cells With FA

Astrocytes, a type of support cell in the brain, showed metabolic defects and unusual pro-inflammatory activity that likely contributes to neuronal dysfunction in a cell model of Friedreich’s ataxia (FA), according to a new study. Results also indicate that treatment with a molecule called smoothened agonist (SAG) can normalize…

Histone Deacetylase Blockers Show Potential in Treating FA, Study Finds

Compounds that blocked the activity of histone deacetylases — enzymes that suppress gene activity — increased the activity of the FXN gene, which is low in people with Friedreich’s ataxia (FA) and limits frataxin protein levels, a proof-of-concept study demonstrated. Researchers used nerve cells derived from FA patients to screen…

Organizations Rally to Help Ukrainian Rare Disease Patients

A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…