A study by researchers at the University of Exeter, Institute of Biomedical Research and the Imperial College London has identified the reason that some people with the disease are born without pancreas pancreatic agenesis.
As reported Sunday IDIBAPS investigators in a statement, this discovery has been made possible by the combination of studies on whole genome sequencing and epigenomics analysis of the regulatory mechanisms of gene expression, which are located in areas of noncoding genome, known heretofore as junk DNA.
Investigators have defined the regions of the genome that regulate gene expression during embryonic pancreas formation, which has allowed to show that different mutations in non-coding regions of these destroy the function of a gene regulatory element ‘PTF1A’ (‘Pancreas Transcription Factor 1A’), in the development embryonic organ.
Pancreatic agenesis is a rare hereditary disease in which patients often have other threats such as heart problems, neurological, in the gut or in the endocrine system, if these malformations do not appear, the disease is called isolated pancreatic agenesis.
Dr. Michael N. Weedon, University of Exeter, and Inês Cebola, IDIBAPS and Imperial College London, have co-signed this study published in the journal ‘Nature Genetics’ and his co-directors are Dr. Jorge Ferrer, IDIBAPS Programming Team Leader Genomics Beta Cells and Diabetes and professor at Imperial College London, and Dr. Andrew T. Hattersley, University of Exeter.
This study, which has been supported by the CIBER of Diabetes and Metabolic Diseases (CIBERDEM), shows how the systematic collection of this type of regulatory elements of the genome can be used to identify the causes of certain diseases such as pancreatic anegesia.
IDIBAPS is a biomedical research center created in 1993 with nearly sixty groups of researchers and is composed of the Hospital Clinic of Barcelona, School of Medicine of the University of Barcelona (UB), the Biomedical Research Institute of CSIC (IIBB-CSIC) and the Ministry of Economy and Knowledge of the Government.
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