Protein function unveiled in rare disease research findings
07 April 2009
The role of a protein involved in a rare and debilitating neurodegenerative disease has been uncovered by scientists at the Medical Research Council’s National Institute for Medical Research (NIMR).
The basic research, published in Nature Structural & Molecular Biology, could lead to finding a cure for Friedreich’s Ataxia, a neurological disease which affects about one in 25,000 people in the UK.
People with Friedreich’s Ataxia have reduced levels of the protein frataxin which affects their energy levels. NIMR scientists found frataxin has a regulatory role in one of the main metabolic pathways of the cell.
Lead author Dr Annalisa Pastore explained: “Frataxin is known to function in the mitochondria, the energy-producing factories of the cell, but until now we did not know how frataxin worked.”
Scientists used biochemical in vitro tests to measure the effect the presence of frataxin has on the formation of iron sulphur clusters. These clusters are an essential part of energy production in the cell.
“We found frataxin has a regulatory role in the formation of iron-sulfur clusters. In Friedreich’s Ataxia patients who have low levels of frataxin, this regulatory process doesn’t work effectively. This explains why these people have too much insoluble iron causing energy loss and cell death,” Dr Pastore said.
One in 120 people carry the gene causing Friedreich’s Ataxia, a disease which can result in people experiencing loss of coordination in the legs and arms, vision impairment, weakening of the heart, diabetes and fatigue.
“Our research allows us a completely new perspective into understanding Friedreich’s Ataxia which will hopefully help us find a cure for this debilitating disease,” Dr Pastore said.
Dr Julie Greenfield from Ataxia UK, the support organisation for people with Friedreich’s Ataxia, said: “This research helps further our understanding of the disease and provides some useful information for future development of treatments.”
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Notes:
Original paper: Bacterial frataxin CyaY is the gatekeeper of iron-sulfur cluster formation catalyzed by IscS published in Nature Structural & Molecular Biology
