Discovered a new gene involved in hypertension.

-The results of his work were published on 11 March in the journal Nature Genetics and conclude that mutations in a gene cause most cases of a rare form of hypertension family

-this work is the fruit of the sequencing of the genome of different families affected for this disease and demonstrates the power of genomic medicine and bioinformatics in the identification the causes of rare diseases

Spain, March 2012.- hypertension is a disease that affects about 10 million people in Spain and 26% of the world’s population. In some cases the hypertension is hereditary. A group of researchers from the Centre for Genomic regulation in collaboration with several laboratories of France have discovered the gene that is involved in the majority of cases of hereditary hypertension with hyperkalaemia or Gordon syndrome.

Until now, knew the role of two genes involved in this type of high blood pressure but only explained 10% of cases. Through the sequencing of the coding part of the genome (the part that contains information for proteins) of two families affected with this ailment, scientists have observed that all patients shared mutations in the KLHL3 gene. After extending the study to more families with the same pathology could confirm that KLHL3 was mutated in the majority of cases. Finally, compared the genomes of these people with people with sporadic hypertension, i.e. non-hereditary, demonstrating that the mutations are specific to people with inherited hypertension with hyperkalaemia.

Our discovery could explain most cases of hypertension family with high levels of potassium in the blood. At the same time, we have observed that mutations in the KLHL3 gene acting on it via that genes that had been described previously, and therefore end up causing the same pathology ”, explains Daniel Trujillano, one of the researchers who has done the job since the Genes and disease of the CRG laboratory. Thanks to the latest generation sequencing, can carry out studies such as this, to discover the cause of specific diseases and thus help in diagnosis ”, adds.

This work demonstrates that the combination of new technologies of sequencing bioinformatics studies are very powerful if they are implemented effectively. Today they have helped us to decipher a rare disease of genetic base, something that makes it easier for the diagnosis of this type of disease that is often a long and difficult process. For example, in the case of these families, would have been an investigation of more than 10 years ”, adds Xavier Estivill, Genes and disease of the CRG program coordinator.

The study has allowed to identify new components of the Ionic transport in kidney cell signaling pathways, opening up new possibilities in pharmacological studies on hypertension. many of the advances in common diseases that affect a large part of the population, as it is the case of hypertension, come by the research in rare diseases, which are the result of observation of hereditary transmission, as it happens with the syndrome of Gordon. This type of research should be maximized in a resolute manner, since the benefit obtained is multiplier ”, says Estivill, Coordinator of this project and other research using the study of the genome in different diseases.

The work has been carried out in collaboration with the University of Nantes and other French research centers. Specifically, the scientist Jean Jeacques Schott, principal investigator of the work of the University of Nantes, has coordinated this study during his stay of a sabbatical year in the Genes and disease of the CRG research programme.

About the CRG

The CRG is an International Institute of biomedical research of excellence, the Mission of which is to discover and advance knowledge in benefit of society, the public health and economic prosperity.

The CRG believes that the medicine of the future depends on the current innovative science. This requires an interdisciplinary scientific team focused on the understanding of the complexity of life, from the genome to the cell, until a complete organism and their interaction with the environment, that offers a view inclusive of genetic diseases.

The combination between the ‘ know how ’ first scientists coming from all the world and availability of cutting-edge equipment, make the CRG a unique centre with a scientific production of high level in the international context and the best scientific and technical services for research.

One of the vertebradotes of the activity of the CRG is its commitment to the transfer of technology and knowledge to return to society. Therefore, it has a technology transfer Office and a team of professionals with experience in the biotechnology and pharmaceutical business. This Office manages the intellectual property generated in the Institute and articulates his transfer to the companies in the sector in the form of patents and licenses that enable the development of innovative products and services. The spirit of cooperation inherent in the Centre fosters relationship with companies and the medical sector and promotes the economic growth of the biomedical sector in Catalonia.

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** Data of the Spanish society of hypertension

** reference work:

Louis-Dit-Picard H **, Barc J **, Trujillano D **, et to the. KLHL3 mutations cause family hyperkalemic hypertension by impairing ion transport in the distal nephron. et to the. NAT. Genet. (in press). ** shared first authorship.

** Thanks: Generalitat de Catalunya i National Plan of research.