A deficiency of frataxin, the protein whose lack causes Friedreich’s ataxia, leads to problems with mitochondrial translation — the molecular process by which new proteins are made in the mitochondria, the so-called powerhouse of the cell responsible for energy production — according to a new study. The findings specifically…

A deficiency in the frataxin protein, which is the underlying cause of Friedreich’s ataxia (FA), alters a process in a large protein structure in mitochondria critical for energy production, a cell-based study suggests. Specifically, this deficiency affects the formation of iron-sulfur clusters — which are specialized molecules needed for…

Nerve and heart muscle cells derived from a man with Friedreich’s ataxia (FA) showed differences in the activity of multiple genes, a study reported. In nerve cells, deficiency in the frataxin protein, the underlying cause of FA, influenced genes related to energy-producing glucose metabolism, or glycolysis. In heart…

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…

Altered regulation of a protein called actin may contribute to neurodegeneration in Friedreich’s ataxia, according to a study in a mouse model of the disease. The work highlighted a potential association between the underlying cause of FA (lack of the frataxin protein) and both over-activation of…

A naturally occurring variant of ISCU2 protein can have the same molecular role as frataxin, an experimental study has found. This discovery may pave the way for the development of new strategies to bypass the effects of frataxin deficiency, which is known to cause …

Several studies have suggested that the deregulation of iron processing in the organism is an important feature of frataxin deregulation, and consequently of Friedreich’s ataxia, according to a review study. In the study, “Iron in Friedreich Ataxia: A Central Role in the Pathophysiology or an Epiphenomenon?”…