Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons of the nervous system controlling the muscle movement, and is the most common inherited cause of death in children under the age of 2. In Europe and the US about 30,000 patients are currently suffering from SMA. The life expectancy of about half of these patients is under two years. Since many years the development of therapeutic strategies for the treatment of SMA have been under investigation and finally led to success:
The team of scientists led by Brunhilde Wirth, director of the Institute for Human Genetics and Principal Investigator at the CMMC uncovered so far unknown cellular pathomechanisms.
The findings - a breakthrough for the treatment of SMA patients - emphasize the power of genetic modifiers to unravel the cellular pathomechanisms underlying SMA, and the power of combinatorial therapy based on splice correction of SMN2 and endocytosis improvement to efficiently treat SMA.
This outstanding scientific contribution has been awarded as highlight by the Am J Hum Genet.
free access for to the publication until Oct. 21, 2016: http://authors.elsevier.com/a/1TedAgeWinGf
The results are published in the prestigious scientific magazine: The American Journal of Human Genetics.
Hosseinibarkooie SM*, Peters M*, Torres-Benito L, Rastetter RH, Hupperich K, Hoffmann A, Mendoza-Ferreira N, Kaczmarek A, Janzen E, Milbradt J, Lamkemeyer T, Rigo F, Bennett F, Guschlbauer C, Büschges A, Hammerschmidt M, Riessland M, Kye MJ, Clemen CS, Wirth B. The power of human protective modifiers: PLS3 and CORO1C unravel impaired endocytosis in spinal muscular atrophy and rescue SMA phenotype.
Am J Hum Genet. 2016, DOI; dx.doi.org/10.1016/j.ajhg.2016.07.014
*equally contributing first authors
http://www.cell.com/ajhg/abstract/S0002-9297(16)30288-9
Copyright ©
Prof. Dr. med. Thomas Benzing
Chair of the CMMC
