Genes That Cause Hereditary Disease PCH Discovered, University of Cologne Study
Published: Aug 22, 2008
niversity of Cologne -- Scientists from Cologne and Amsterdam have discovered the mutations in human genetics, which cause the hereditary disease ponto cerebellar hypoplasia (PCH) of the types 2 and 4. “In the case of PCH, the protein complex – the so-called tRNA-Splicing-Endonuclease, is mutated. This complex in involved in the manufacture of proteins in the human body and was identified in connection with a disease for the first time,” reports Birgit Budde from the Cologne Center for Genomics and Institute for Genetics of the University of Cologne.