Newly identified gene described in Nature Genetics

Dodano: :: Kategorie: Latest news, Success Stories
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We are pleased to inform our readers of the success of Arkadiusz Piotrowski, PhD hab., from the Department of Biology and Pharmaceutical Botany at the Medical University of Gdańsk, a beneficiary of the FOCUS and SKILLS/MENTORING programmes.

 

Piotrowski’s research, conducted together with Prof. Ludwine Messiaen (Department of Genetics, University of Alabama at Birmingham), has led to the identification of the gene whose damage predisposes for schwannomatosis – a form of neurofibromatosis that involves multiple tumours developing from Schwann cells of the peripheral nerves. The research results have been published in Nature Genetics. The authors of the paper also include Piotr Madanecki, PhD, a bioinformatics specialist and a member of the research team formed thanks to a grant from the FNP’s FOCUS programme.

 

Until now, scientists didn’t know enough about the causes of schwannomatosis at the molecular level to enable pharmacological therapy to be developed. This can be crucial for treatment, because only some tumours can be removed surgically without any neurological consequences. The results obtained by Prof. Ludwine Messiaen and Arkadiusz Piotrowski point to the LZTR1 gene; damage to this gene predisposes people for schwannomatosis in 80% of cases of the disease linked to chromosome 22 and without a SMARCB1 gene mutation. Identifying LZTR1 as the gene predisposing for schwannomatosis is of unquestionable importance for molecular diagnostics and also opens the way to improving our knowledge of the disorder’s aetiology.

 

Piotrowski says that the experience he gained and the research methodology he developed during implementation of his FOCUS grant contributed to the success of his research. Moreover, support from the FNP made it possible to pursue closer collaboration with Prof. Ludwine Messiaen, who was a consultant during the FOCUS grant and is currently a mentor under the SKILLS/MENTORING programme.

 

Congratulations on this research success and prestigious publication!

 

Link to the paper: http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.2855.html