Alice Melão,  —

Statins, a cholesterol-lowering medication, can increase the amount of a good cholesterol component that is found in low levels in Friedreich’s ataxia patients, possibly helping them avoid heart failure, a Philadelphia study shows. Scientists link poor levels of ApoA-I, as the good cholesterol protein is known, to an increased risk…

Researchers found a 50-year-old hypertension therapy can enhance the amount of frataxin protein in cells from patients with Friedreich’s ataxia and mouse models of the disease. The finding was reported in the study, “Effect of Diazoxide on Friedreich Ataxia Models,” published in the journal Human…

Patients with Friedreich’s ataxia have impaired emotion recognition that may be secondary to neuropsychological impairment, according to a study published in the journal The Cerebellum. Expressing and reading emotions are essential social skills necessary for developing relationships, as well as for showing your own feelings. To a great…

Increased levels of six small RNA molecules, or microRNAs, in the blood could be a specific genetic marker for Friedreich’s ataxia features and progression, researchers have found. The study was titled “Differentially Regulated Cell-Free MicroRNAs in the Plasma of Friedreich’s Ataxia Patients and Their Association with…

Researchers at Tufts University have developed a new, more powerful method of analyzing DNA sequencing to better identify and understand complex genomic rearrangements (CGRs), which are involved in many genetic disorders and cancers. CGRs can occur in diseases where expansion of repetitive DNA sequences is a core feature, such…

Researchers at the University of Wisconsin-Madison have developed a synthetic molecule that may help overcome the effects of the genetic defect that causes Friedreich’s ataxia. According to the study, “Synthetic transcription elongation factors license transcription across repressive chromatin,” the Syn-TEF1 molecule can bind to the mutated…

Researchers have found that asymptomatic dysfunction of mitochondrial activity in the part of the brain that regulates muscular activity, the cerebellum, may be a first step in the development of Friedreich’s ataxia (FA). A study, “Early cerebellar deficits in mitochondrial biogenesis and respiratory chain complexes in the…

Transplanting hematopoietic stem and progenitor cells (HSPCs) restored muscle strength and motility function in a mouse model of Friedreich’s ataxia, according to a report published in Science Translational Medicine. Researchers at University of California San Diego School of Medicine showed that HSPCs could restore the activity of mitochondria in…

A manmade version of the frataxin protein that’s missing in Friedreich’s ataxia increased frataxin levels in the muscles of mice with the disease, increasing their survival, a study found. Scientists used parts of several proteins to create what they called a fusion version of frataxin. The team reported its findings in the…

CRISPR Therapeutics has received a grant from the Friedreich’s Ataxia Research Alliance to support its work on gene editing as a potential treatment for the disease. The company will use the Kyle Bryant Translational Research Award on animal studies of CRISPR/Cas9 gene-editing strategies for FA. The size of the grant was not…