( Friedreich's ataxia is one of those dis...)Moonlighting enzyme linked to neurodegenerative disease

Friedreich's ataxia is one of those diseases few have heard of unless you know someone with the condition. For that individual -- usually a child or teenager -- it is devastating. Symptoms are mild at first: muscle weakness in the arms and legs, vision impairment and slurred speech, but eventually the symptoms progress and most patients become wheelchair-bound and succumb to heart failure later in life. There is no cure at this time, but Mayo Clinic researchers have identified mutations in an enzyme that may contribute to the disease.

"Children and teens want to be on top of the world and having a disease like this is devastating for them and their families in so many different respects," says Grazia Isaya, M.D., Ph.D., senior author of the study and a basic scientist at Mayo Clinic who specializes in Friedreich's ataxia. "Their cognitive functions are not impaired so they understand exactly what is happening to them."

Friedreich's ataxia is an inherited neurodegenerative disease of children and teens and is considered an orphan disease by the National Institutes of Health because of its rarity -- affecting one in 40,000. It is associated with a deficiency of frataxin, a protein that balances iron in mitochondria, which are the structures that convert nutrients into energy for cells. A new Mayo Clinic study published in the April issue of the Proceedings of the National Academy of Sciences (PNAS) shows that mutations in a moonlighting enzyme, dihydrolipoamide dehydrogenase (DLD), are responsible for decreasing the enzyme's primary role as a metabolizer, while increasing its role in breaking down frataxin, its second job.

Moonlighting proteins and enzymes are molecules that perform two or more different functions. These proteins are thought to have evolved because they can provide cells with significant advantages, namely, the ability to increase the spectrum of metabolic activities without increasing the number of protein-coding genes, and
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Source:Mayo Clinic

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