Newspaper article The Florida Times Union

Genetic Find Aids Disease Research at Mayo Clinic; Breakthrough Scientists Have Discovered the Defect That Damages the Brain's Neurons. Results New Details Could Help Treat, or Cure, Parkinson's, Lou Gehrig's Diseases

Newspaper article The Florida Times Union

Genetic Find Aids Disease Research at Mayo Clinic; Breakthrough Scientists Have Discovered the Defect That Damages the Brain's Neurons. Results New Details Could Help Treat, or Cure, Parkinson's, Lou Gehrig's Diseases

Article excerpt

Byline: JEREMY COX

Of the billions of people who have ever walked this planet, only about 100 have been diagnosed with Perry syndrome.

So why would an international team of scientists led by a Mayo Clinic Jacksonville researcher spend seven mostly frustrating years looking into obscure corners of the human genome in search of its cause?

For the chance to unlock a key biological doorway that could lead to better treatments - or even a cure - for Parkinson's disease, Lou Gehrig's disease and depression.

In May, the team discovered what it was looking for, complete with a eureka moment. The findings appear today in the online edition of Nature Genetics and in the journal's February issue.

"To me, it's one piece in the puzzle of the whole picture of neurodegeneration," said Matt Farrer, the study's lead author and a Mayo Jacksonville neuroscientist.

The team's hunt uncovered among Perry syndrome patients a genetic defect in the protein that serves as the molecular motor for all of the body's cells. For reasons still unknown, the defect only affects neurons, or brain cells, in the midbrain, the part that controls muscle movement.

Perry syndrome was first recognized in 1975 as a distinct illness. Its symptoms are so similar to Parkinson's disease that doctors didn't realize for decades that something else was to blame for their patients' deterioration, Farrer said.

A person with the Perry defect typically sees the first signs around 50 years old. The syndrome begins with the onset of depression so devastating that one-third of patients commit suicide.

Those who survive the first stage, though, face a grim decline: Parkinson's-like symptoms and weight loss, followed by difficulty breathing and loss of bowel control. Most patients die within two to 10 years.

Farrer and the other researchers analyzed blood samples taken from four Perry syndrome-prone families. …

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