Austrian researchers discover gene responsible for rare muscle-nerve disease

Source:Xinhua Published: 2012-9-11 10:39:37

A research team from the Innsbruck Medical University in western Austria have discovered a genetic defect responsible for the previously unexplainable muscle-nerve disease "acute motor axonal neuropathy", the APA reported on Monday.

The disease, examined in patients at the University's hospital in Innsbruck, leaves sufferers with the inability to walk steadily, their foot-lifting muscles paralyzed, and also with trouble using their hands, often having difficulty releasing objects once taken into grip.

The team responsible for the discovery of the genetic defect was led by human geneticist Andrew Janecke from the Medical University and included two colleagues from Belgium, with the study published in the latest issue of "Nature Genetics."

The researchers studied the DNA of patients afflicted and discovered the gene called "HINT1" had displayed various changes, and found the disease occured only when the genocopy was present on both of a pair of chromosomes.

Only a few Austrians are afflicted by the rare disease, said neurologist Wolfgang Loescher also from the Medical University, and due to its relatively new nature it is unknown how far advancements can be made, with the "oldest" patient having only been studied for six years.

The researchers were able to show through the study that HINT1 is used in the peripheral nervous system, though which exact function it has and what process leads to illness is not yet known.

Posted in: Biology

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