Trigger for Rare, Fatal Disease Uncovered

The triggers for some diseases are never discovered. But often times when they are it offers substantial aid toward finding ways to prevent and treat such diseases.

A University of Tennessee scientist believes he has found a key trigger to a rare but deadly neurodegenerative disease.

Jeremy Smith, governor's chair for molecular biophysics at the University of Tennessee, Knoxville; said the discovery of a trigger for Gerstmann–Sträussler–Scheinker (GSS) syndrome could aid in treatments for a host of other neurodegenerative diseases including Alzheimer's, Huntington's and Parkinson's.

Check your family history for GSS since it may be inherited.

Generally GSS patients develop symptoms such as loss of memory, difficulty speaking and unsteadiness in their late 50s. It generally leads to progressive dementia and death within a few months or years. There is no cure or treatment.

The disease stems from a single, tiny mutation in a protein, resulting in it having the wrong shape through misfolding, then aggregating to form amyloid plaques in the brain.

Researchers compared high-performance computer simulations of the structures of normal and GSS–mutant proteins, finding that the GSS protein appears dramatically different from the normal form with a shape that is primed for plaque formation.

Smith said that similar investigations could prove beneficial in understanding the origins of other amyloid diseases such as Alzheimer's, Parkinson's and rheumatoid arthritis. Once the origin is understood at molecular detail, strategies to prevent and cure a disease are possible.

The findings were published in the Biophysical Journal.