Discovered the mutation that causes deposit disease dense
The disease dense deposit (DDD ) is a rare disease that mainly affects children between 5 and 15 years. Patients who suffer progressively lose the filtering capacity of the kidneys to eventually need dialysis treatment or transplantation kidney, temporary solution to reproduce the disease quickly in the new transplanted organ. Now, scientists from the ( CSIC ) have now discovered that the mutation that determines the development of this disease.
The conclusions drawn from the study, published in the journal Journal of Clinical Investigation, Several patients of the same family as the fact that several members of the same family develop the disease is an exceptional case. They found a mutation in the protein C3, Related to the add. is a defense system that is activated in the presence of pathogenic organisms. The mutation in it causes an exaggerated response , triggering eventually the disease.
According to the authors, this change will better understand various aspects of complement hitherto little known, and to search for new therapeutic targets against this disease and others in who are participating this system.
Detection of amyotrophic lateral sclerosis
In patients suffering sclerosis lateral AmyotrophicAs the physicist Stephen Hawking , the neurons that control movement voluntary muscle will die gradually.
Is known cause a mutation in an enzyme called superoxide dismutase 1 causes that the protein does not fold properly. However, this mutation occurs in only 2 % of cases of this disease so it is important to continue studying the causes of the disease.
To this end , a group of scientists University of Toronto (Canada ) has developed antibodies that can detect whether the enzyme is folded properly or wrong. Although we are talking about using these antibodies to detect the disease before symptoms appear , or even attack the cause of the disease, the value initial will be to study the implication of protein folding in cases of illness in which unknown cause.
