Leukaemia’s genome is sequenced for the first time by scientists from Barcelona and Oviedo

Barcelona (ACN).- The mutation of four genes is responsible for developing Chronic Lymphocytic Leukaemia (CLL), the most common leukaemia in Western countries. Further studies may identify mutations in other genes which could also be involved with CLL. Those are the main conclusions of a pioneer study published last Sunday in the world-famous scientific journal ‘Nature’ and led by researchers from the Hospital Clínic in Barcelona, and the University of Oviedo in Asturias. It is the first time that leukaemia’s genome has been completely sequenced. It has been possible thanks to the collaboration of different teams and research centres, such as the National Centre for Genomic Analysis (CNAG) in Barcelona’s Scientific Park (part of the University of Barcelona) and the Centre for Genomic Regulation (CRG), located in the Barcelona Biomedical Research Park (PRBB). This is Spain’s first contribution to the International Cancer Genome Consortium (ICGC).

The study published on Sunday in ‘Nature’ is a unique and pioneer study at world level. It is the first time that the Chronic Lymphocytic Leukaemia’s genome has been sequenced, in order to identify which are the genes responsible for developing this type of cancer. The study was based on comparing the genome of four individuals affected by Chronic Lymphocytic Leukaemia (CLL). In each person, more than 1,000 genes have been found with mutations due to the illness. However, only four of them coincided. In order to complete the work, the scientists have checked for possible mutations in those genes in another 363 patients. In some cases, the observed mutation was identical among certain individuals, but not in all of them. Nevertheless, the four mutated genes were always the same. Therefore they can now ensure that “mutations in those four genes are responsible for developing the illness”, as one of the study’s directors Dr. Carlos López-Otín, from Oviedo’s University, explained. Further studies will try to identify other genes also responsible for developing the illness.

CLL affects more than 1,000 people each year in Spain, stated Dr. Elías Campo, from Barcelona’s Hospital Clínic. “Until now, the mutations provoking the illness were unknown”, but the study is a step forward in identifying four of those mutations, explained Dr. López-Otín. He added that thanks to those conclusions “specific inhibitors will be developed” to stop the mutations in those four coinciding genes.

The International Cancer Genome Consortium’s objective is sequencing 500 tumour genomes from 50 different types of cancer. The study led by Catalan and Asturian researchers is included in this huge project, based on contributions from across the world. It is a project based on international cooperation. The study is the first stage in Spain’s contribution, as only four patient’s genomes have been sequenced, and there are 496 pending. However, thanks to the technology at the National Centre for Genomic Analysis (CNAG), located at Barcelona’s Scientific Park (part of the University of Barcelona, based at the Diagonal Campus), means that the sequencing will be much faster than it would have been five years ago.