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Functional analysis of introns and gene regulatory sequences aimed at targeted modulation of gene expression

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Gene defects point to new therapies

Understanding the molecular mechanisms that underlie human pathologies is an important first step towards developing effective long-term therapies. Shedding light on the function of genes and genetic abnormalities involved in disease is therefore a critical objective of the European research community.


The EU's FINGER project focused on the study of the regulation of gene expression with particular reference to the dystrophin gene. Genetic irregularities, including recombinations, mutations and deletions, have been shown to be associated with drops in dystrophin levels and a group of ailments, referred to as dystrophinopathies. As do all other genes, the dystrophin gene comprises a series of coding regions, carrying the actual genetic information required for protein synthesis, as well as non-coding regions, known as introns. The function of introns has not been fully elucidated, but evidence from research labs worldwide testify to their importance in regulating gene stability and expression. Project partner, University of Padova, characterised series of introns within the dystrophin gene of muscular dystrophy patients, in an effort to establish links between intron abnormalities and pathology. The aim was to define the specific deletion and recombination junctions and thus pinpoint the specific loci involved. Results showed that two out of the five introns studied were particularly linked to high numbers of recombination events in healthy individuals and also in dystrophy patients. Researchers hypothesised that the actual inherited DNA sequence could contribute to the creation of molecular changes, deletions and recombinations. Although genetic diseases, like muscular dystrophy, are proving extremely challenging to treat effectively, efforts presented herein appear to shed light on a number of important issues. Pharmaceutical companies and public sector research institutes are invited to offer their support and potentially gain from the findings.

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