Spanish researchers identified mutations that provide new clues about the disease
MADRID .- Spanish researchers sequenced the entire genome of patients with chronic lymphocytic leukemia (CLL) and identified mutations that provide new clues about the disease, the most common type of leukemia in Western countries.
The study is led by researchers Elias Campo, Hospital Clínic and University of Barcelona, and Carlos López-Otin, of Oviedo, and is a "milestone" in the investigation in Spain and a major breakthrough in the fight against cancer, said the Spanish Ministry of Science and Innovation in a statement.
The study is led by researchers Elias Campo, Hospital Clínic and University of Barcelona, and Carlos López-Otin, of Oviedo, and is a "milestone" in the investigation in Spain and a major breakthrough in the fight against cancer, said the Spanish Ministry of Science and Innovation in a statement.
The study, published in the journal Nature, has had the participation of more than 60 Spanish Consortium researchers Genome CLL.
It represents the first contribution of Spain to the International Consortium Cancer Genome (ICGC), the largest research project against the disease in history involving scientists from 11 countries to sequence the 50 most important cancers.
Although it is known that the cause of chronic lymphocytic leukemia is the uncontrolled proliferation of B lymphocytes of patients is not known which mutations cause the disease, according to Elias Campo.
The human genome consists of more than three billion chemical units called nucleotides.
By sequencing the genome, each nucleotide is read at least 30 times to verify that the reading is correct, so we can assign with certainty the mutations identified.
It represents the first contribution of Spain to the International Consortium Cancer Genome (ICGC), the largest research project against the disease in history involving scientists from 11 countries to sequence the 50 most important cancers.
Although it is known that the cause of chronic lymphocytic leukemia is the uncontrolled proliferation of B lymphocytes of patients is not known which mutations cause the disease, according to Elias Campo.
The human genome consists of more than three billion chemical units called nucleotides.
By sequencing the genome, each nucleotide is read at least 30 times to verify that the reading is correct, so we can assign with certainty the mutations identified.
In this work, researchers have used advanced technology to sequence the 3 billion nucleotides of the entire genome of tumor cells from four patients and have compared the sequence of the genome of healthy cells from the same individuals.
"This approach has allowed us to verify that each tumor has suffered a thousand mutations in their genome," says Carlos Lopez-Otin.
"Further analysis of the mutated genes in a group of more than 300 patients identified four genes whose mutations cause the development of CLL," reveals the researcher.
Advances in knowledge of cancer molecular biology in recent decades have established that it is a disease caused by the accumulation of genetic damage in normal cells, but until now the identification of these changes was a slow and laborious .
However, thanks to the latest equipment for the sequencing of genomes, such as those available to scientists at the National Center for Genome Analysis, this process has accelerated, and this center can be sequenced at present to six human genomes in one day.
The analysis of the extraordinary volume of data generated in this project has required the creation of specialized programs.
Sidrón is the name of the tool developed at the University of Oviedo (northern Spain) and has been essential to identify the mutations present in tumor genomes.
The work of several decades in the Hospital Clínic of Barcelona (northeast) in CLL has allowed the consortium to have DNA and clinical data from hundreds of patients, who have provided an additional clinical dimension to this genomic study.
Spanish Consortium for the Study of Genome chronic lymphocytic leukemia (CLL Genome www.cllgenome.es) is funded by the Ministry of Science and Innovation, through the Instituto de Salud Carlos III.
Is part of the International Genomics Consortium Cancer led by Dr. Tom Hudson of the Institute of Cancer Research Ontario (Canada).
"This approach has allowed us to verify that each tumor has suffered a thousand mutations in their genome," says Carlos Lopez-Otin.
"Further analysis of the mutated genes in a group of more than 300 patients identified four genes whose mutations cause the development of CLL," reveals the researcher.
Advances in knowledge of cancer molecular biology in recent decades have established that it is a disease caused by the accumulation of genetic damage in normal cells, but until now the identification of these changes was a slow and laborious .
However, thanks to the latest equipment for the sequencing of genomes, such as those available to scientists at the National Center for Genome Analysis, this process has accelerated, and this center can be sequenced at present to six human genomes in one day.
The analysis of the extraordinary volume of data generated in this project has required the creation of specialized programs.
Sidrón is the name of the tool developed at the University of Oviedo (northern Spain) and has been essential to identify the mutations present in tumor genomes.
The work of several decades in the Hospital Clínic of Barcelona (northeast) in CLL has allowed the consortium to have DNA and clinical data from hundreds of patients, who have provided an additional clinical dimension to this genomic study.
Spanish Consortium for the Study of Genome chronic lymphocytic leukemia (CLL Genome www.cllgenome.es) is funded by the Ministry of Science and Innovation, through the Instituto de Salud Carlos III.
Is part of the International Genomics Consortium Cancer led by Dr. Tom Hudson of the Institute of Cancer Research Ontario (Canada).
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