Research

Scientists Discover New Human Disease

An international team in Freiburg has identified a new genetic disorder

11. 5. 2012 | An international team of scientists led by Prof. Leena Bruckner-Tuderman, Director of the Department of Dermatology at the University hospital in Freiburg, has identified a new genetic disorder. It is complex, exhibits symptoms in multiple organs – affecting the skin, kidneys and lungs – and is caused by mutations in the gene that regulates protein molecule integrin alpha-3.
The newly-identified disease leads to severe breathing difficulties right after birth. In addition, the kidneys are affected by the congenital nephrotic syndrome, causing water and electrolytes to leak into body tissue. The nephrotic syndrome can be detected by laboratory tests and is treated with dialysis. "The fact that the anomalies in both organs were caused by the same genetic defect was not evident at first", Prof. Bruckner-Tuderman explains. Only the conspicuously fragile skin, developing when afflicted infants are two month old, pointed the scientists in the right direction.

Examinations in the Epidermolysis Bullosa Centre at the Department of Dermatology at Freiburg University were crucial for finding this new diagnosis, allowing scientists to identify the missing protein and subsequently the genetic mutation that causes this disease. Epidermolysis bullosa is the name given to genetic skin fragility disorders. They form an extremely diverse group of diseases whose hallmark is blistering of the skin or mucous membranes in response to minor mechanical injuries. The disorders are caused by mutations in the genes responsible for the cohesion between skin layers.

"We identified the molecular mechanisms in this complex syndrome and were able to prove that the same molecular defect is accountable for the involvement of all three organs", Prof. Cristina Has elaborates, who coordinated the research and is lead author of the corresponding article published in the New England Journal of Medicine. The absence of the protein molecule integrin alpha-3 has an adverse effect on the structure and function of basement membranes, which form a specific protein layer in the skin, kidneys and lungs. The acute syndrome demonstrates just how crucial the role of this protein molecule is in these "epithelial organs".

In future, an interdisciplinary collaboration between dermatologists, paediatricians and internists will seek to diagnose additional patients with genetic mutations affecting the protein molecule integrin alpha-3, with the aim to find further symptoms of this complex disorder.

Prof. Leena Bruckner-Tuderman, besides being Medical Director of the Department of Dermatology at the University Freiburg Medical Centre and head of the Center for Excellence "Fragile Skin" there, is also Director of the School of Life Sciences at the Freiburg Institute of Advvanced Studies (FRIAS).
  (© FRIAS Freiburg Institute For Advanced Studies)
FRIAS Freiburg Institute For Advanced Studies

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