Protein May Make Up for
Deficiency in Friedreich’s Ataxia

MDA research grantee Grazia Isaya at Mayo Clinic College of Medicine in Rochester, Minn., was part of a study that found that a protein called mitochondrial ferritin can substitute to a large extent for frataxin, the protein that’s deficient in Friedreich’s ataxia (FA).

This form of ferritin is located in the mitochondria, the energy-producing units of cells, as frataxin normally is. Its function is thought to be that of regulating iron levels in the mitochondria, which is the presumed function of frataxin.

In studies conducted in yeast cells and published in the Oct. 1 issue of Human Molecular Genetics, the investigators found that mitochondrial ferritin protected against damage associated with frataxin deficiency, which could mean that it might be relevant in the treatment of FA.

Additional studies in frataxin-deficient cells and in mice with FA will be needed to confirm these findings, Isaya says.

She adds, “Recent advances in the artificial manipulation of gene activity give hope that one day soon it will be possible to control protein production from specific genes. If mitochondrial ferritin compensates for frataxin deficiency in cells from mammals, then artificially increasing protein production from this gene will be a very attractive avenue for therapy of FA.”