Results about: Kennedy's disease

A high resolution description of the structure and dynamics of proteins is a very useful tool to study the properties and the function of these important biomacromolecules and, most importantly, to understand how changes in sequence or environment can lead to disease.

Discovery of molecular protection linked to a degenerative neuromuscular disease

Kennedy’s disease leads to progressive muscle wastage. It is a condition that affects only men and it appears between 40 and 50 years of age. There is no specific treatment available.

In individuals with this disease, muscle cells and motor neurons die over the years because they accumulate a protein that is mutated.

Researchers at IRB Barcelona discover that this protein has a self-protective mechanism through which the deleterious effects of the mutation are delayed.

IRB Barcelona’s “Meet Our Scientists” video series brings biomedicine closer to society

The second video, "Magical Choreography" (02:52), is devoted to Xavier Salvatella, ICREA researcher and holder of an ERC grant, awarded in 2015.

This biophysicist studies protein folding using the Androgen receptor as a model—a receptor linked to Kennedy disease —a rare neurodegenerative condition —and also to prostate cancer.

His research could lead to new drug treatments for both conditions. "Doing what we do is an honour but also a responsibility," says the scientist.

Rare and orphan but not abandoned by science

On Friday 6 March in a conference at the CCCB, researcher Xavier Salvatella will explain the excellent moment being experienced by research into rare diseases.

Salvatella will present the breakthrough in his lab regarding Kennedy’s disease, a rare muscular atrophy that affects 1 in 36,000 men. “In five years’ time we could have a candidate drug tested in cells in vitro.”

This is the first of four conferences in the “Science today for the medicine of the future”, proposed by IRB Barcelona to explain the close link between basic research and medicine of the future, held on the occasion of the 10th anniversary of the centre.