Intellect Neurosciences Inc. (fka ILNS)

[montanus]

Understanding the Role of the Protein Involved in Friedreich Ataxia?
Cells Lacking Pfh1, a Fission Yeast Homolog of Mammalian Frataxin Protein, Display Constitutive Activation of the Iron Starvation Response
? See referenced article, J. Biol. Chem. 2012, 287, 43042–43051

Friedreich ataxia is a rare genetic disease that damages the nervous system and causes movement problems. It usually begins in childhood and worsens with age. The disease involves deficiencies in the protein called frataxin. The protein has homologs in both eukaryotes and prokaryotes, but its function is still unresolved. In this Paper of the Week, a team led by Elena Hidalgo at the Universitat Pompeu Fabra in Spain identified a frataxin homolog in the mitochondria of fission yeast. The investigators found that cells missing the gene for the protein were sensitive to growth under aerobic conditions, had increased levels of total iron, showed signs of oxidative stress, and consumed less oxygen compared with wild-type cells. These signs closely mimic the problems associated with reduced frataxin levels in cells from Friedreich ataxia patients. Proteomic analysis showed that when fission yeast cells were missing the frataxin homolog, iron in the cytosol was less readily available, causing the activation of a regulator of the iron starvation gene expression program. The data suggest that the frataxin homolog is important for iron and reactive oxygen species homeostasis. The investigators say that their strain of fission yeast missing the frataxin homolog will make a new model for studying the molecular basis for Friedreich ataxia.

http://www.jbc.org/content/287/51/43052