Genetic defect ossifies connective tissue
Fibrodysplasia Ossificans Progressiva (FOP) is a rare genetic defect in which the body does not form scars during the healing process, but bones. Smallest injuries can cause bones in those affected where there was muscle and connective tissue just before.
The Eva Luise Köhler Research Award for Rare Diseases 2020 is awarded for a new therapeutic approach that could inhibit progressive ossification for the first time. This gives new hope for those affected by FOP.
Rare genetic defect
Only around 800 people worldwide suffer from the rare disease FOP. With increasing age, the patients are often dependent on a wheelchair, often during puberty, because all joints in the body increasingly stiffen, because even the smallest injury can lead to new bones forming in the body.
Surgery can make the condition worse
Nadine Großmann received her FOP diagnosis at the age of 13. It illustrates the drastic consequences of injuries for people with FOP. Due to the rarity of the disease, even most doctors do not know that surgery can trigger massive bone growth spurts.
Nadine Großmann experienced this firsthand: after a jaw operation, her bone grew around the TMJ, so that she could only open her mouth two millimeters. A short time later, her right shoulder stiffened in another episode of illness.
New hope for those affected by FOP
A research team led by Professor Dr. Martina Rauner and Dr. Ulrike Baschant recently discovered a protein that inhibits excessive bone formation. For the discovery, the researchers received the Eva Luise Köhler Research Award for Rare Diseases 2020 in the amount of 50,000 euros. With the prize money, the team wants to use genetically modified FOP mice to check whether the protein is suitable for inhibiting excessive bone formation.
A promising discovery
The research team examined the interplay between iron and bone metabolism and discovered that the protein transferrin receptor-2 (Tfr2) formed in the liver is an extremely effective regulator in derailed bone metabolism. “When we saw how potent the binding region of Tfr2 inhibited undesired ossifications, that is, excessive bone growth, we knew that this discovery had potential for clinical development,” reports Martina Rauner.
Also conceivable for use with endoprostheses
The discovery seems to be interesting not only for FOP sufferers. “Even in patients without an ACVR1 mutation, for example after the implantation of hip joint endoprostheses, the ossification of the surrounding tissue is a common complication, which can lead to permanent pain and restricted movement,” adds Professor Dr. Annette Grüters-Kieslich from the foundation board. (Vb)
Author:
Graduate editor (FH) Volker Blasek
–
Swell:
- Eva Luise and Horst Köhler Foundation: When muscles become bones: Eva Luise Köhler honors research on rare bone disease (published: February 12th, 2020), elhks.de
–
–
–
Important NOTE:
This article contains general information only and should not be used for self-diagnosis or treatment. He can not substitute a visit at the doctor.
– ,
