Results about: Lafora Disease
The group directed by Prof. Guinovart is involved in several projects on glycogen metabolism and its dysfunctions in diabetes and Lafora disease.
A study published in Cell Metabolism by IRB Barcelona scientists turns long-standing assumptions about glycogen biology on their head.
The results may explain the muscular defects of patients with glycogen storage disease XV.
Scientists from the US, Canada and Spain, among them Joan Guinovart from IRB Barcelona, are poised to perform joint research with the aim to find a treatment for Lafora disease, the most severe type of epilepsy in humans.
The National Health Institutes has awarded the consortium $8.5 over five years.
The US organisation Chelsea’s Hope, a charity formed by families affected by this disease, has promoted this international collaboration.
The Asociación Española de Enfermos de Glucogenosis (AEEG) is to mark International Pompe day by organising activities throughout Spain to raise awareness of this disease and by launching a fundraising campaign to co-fund a research project at IRB Barcelona.
Pompe disease is a rare condition that causes progressive muscle degeneration. It causes death in infants under one year of age and severe muscle weakness in children and adults.
It is estimated that between 5,000 and 10,000 people worldwide suffer from this disease, which has an incidence of 1 case per 40,000 live births. In Spain, there are roughly 400 people with this condition, only 100 diagnosed.
A deficiency in a protein causes the deterioration of muscle cells. However, research into the role of motor neurons in this disease is required.
Two articles produced by Joan Guinovart’s lab answer key questions regarding the activity of glycogen in neurons.
An excess of glycogen causes neuronal death while a lack of this polysaccharide endangers these cells under oxygen shortage to the brain.