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Rare genetic condition tracked down with potential new biomarker [Print to PDF] [Print to RTF]

An EU-funded team of researchers from Canada, Germany and Poland has made new headway in research into the genetic condition neurofibromatosis (NF1).

Neurofibromatosis, which affects around one in every 3,000 people, can manifest in varying forms: benign 'café au lait' patche...
Rare genetic condition tracked down with potential new biomarker
An EU-funded team of researchers from Canada, Germany and Poland has made new headway in research into the genetic condition neurofibromatosis (NF1).

Neurofibromatosis, which affects around one in every 3,000 people, can manifest in varying forms: benign 'café au lait' patches on the skin, small tumours under the skin, deep plexiform neurofibromas, and malignant tumours of the nerve sheath.

Currently no biomarker - a protein measured in blood whose concentration can reveal the presence of a particular disease - exists for detecting tumours in NF1 patients, but now the international team of researchers has shown that a simple blood test for the protein melanoma-inhibitory activity (MIA) could potentially be used as a biomarker to indicate the presence of neurofibromas even when they are not visible to the human eye on the skin.

Funded in part by the EUROGROW ('Pathophysiology of the cartilage growth plate') project, part of the 'Life sciences, genomics and biotechnology for health' Thematic area of the EU's Sixth Framework Programme (FP6), the team analysed levels of MIA from blood of patients with NF1. They discovered that the patients had very high serum levels of MIA, and that this level depended on the number and size of neurofibromas and plexiform neurofibromas present in each person. Tumour biopsies also showed an increase in MIA at the cellular level.

Dr Kolanczyk, lead researcher on the project from the Institute of Medical Genetics, Humboldt University in Germany, comments: 'Using the biomarker MIA to test for the presence and growth of plexiform neurofibromas would be an easier and cheaper way of monitoring [the] clinical course of the patients and would allow the early detection of tumours, [thus] improving the treatment, management and outcome. Detection of deep plexiform neurofibroma is currently only possible using [an] MRI scan, and since these tumours can become malignant, it is important to monitor their growth closely and detect signs of malignant transformation as early as possible.'

The EUROGROW project involves 11 partner organisations; its overall aim is to investigate the chondrodysplasias, an extremely diverse and complex group of rare genetic disorders affecting the development of the skeleton.

In total, there are over 200 unique and well-characterised phenotypes, which range in severity from relatively mild to severe and lethal forms. In every 10,000 people, 4 are affected by one of these conditions; this means that in the 25 Member States where chondrodysplasias are prevalent, there are at least 178,000 people who are affected.

Many of the individual skeletal dysplasia phenotypes have been grouped into 'bone dysplasia families' on the basis of similar clinical and radiographic features, and it is thought that members of the same family will share a common disease pathophysiology. Therefore, as a group of heterogeneous diseases, the chondrodysplasias have a complex aetiology but are likely to share similar basic mechanisms of disease initiation, progression and end-stage pathology.
Source: Humboldt University

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  • Canada, Germany, Poland
Record Number: 33582 / Last updated on: 2011-07-04
Category: Report summary
Provider: EC