24 August 2016
A study coordinated by researchers from the Hospital del Mar Medical Research Institute (IMIM) and involving 12 groups from across Spain has, for the first time in this country, described the fact that diabetes mellitus not only increases the risk of dying from cardiovascular problems (myocardial infarction, stroke or heart failure), but also significantly increases mortality linked to cancer, infection, chronic obstructive pulmonary disease, and hepatic and renal illnesses. The results have been published in the prestigious journal Diabetes Care.
An international project, The Exome Aggregation Consortium (ExAC), involving researchers from the IMIM (Hospital del Mar Medical Research Institute) as the only Spanish participant, has analysed the DNA that encodes proteins in 60,706 individuals from different ethnic groups and has presented the international scientific community with a catalogue that contains the mutations identified, their frequency and their arrangement on the DNA.The study has been published in the journal Nature and involved the analysis of ten times more individuals than in any previous study.
DNA is the molecule within our cells that contains the information for making proteins, in the form of a sequence of four letters or bases [adenine (A), guanine (G ), thymine (T) and cytosine (C)]. In recent years we have developed technologies to sequence, i.e., read the order of these bases in a person's DNA. Changing one of these bases can sometimes alter the protein that the cell makes and lead to illness. For this reason, it is important to know what the normal sequence of bases in DNA is, the frequency of mutations (changes in the sequence of these bases), and where these changes take place, by making a catalogue and map of DNA mutations in humans.