You can clear up imprinting diseases: With our methylation-sensitive methods

 

In most cases it is a whim of nature. It just happens. Both parents are healthy. There are no known hereditary diseases in the family. And yet a child is born with a rare genetic disease. In these cases, experts speak of maternal or paternal imprinting.

Parental imprinting is based on epigenetic mechanisms. A person's phenotype is determined not only by his genotype, but also by the epigenetic status of his DNA. This epigenotype is determined by the structure of chromatin, which is influenced, among other things, by the methylation of specific DNA regions. Of the approximately 100 parental genes of the genome, one of the two parental alleles is inactive due to specific methylation and the other is active. Imprinting thus overrides the Mendel´schen rules.

If the natural imprinting of a parental region is suspended, this leads to a misregulated expression of genes and thus to a pathogenetically relevant state. In addition, pathogenic variants in the active copy of a parental gene cannot be compensated by the second inactive copy. The products of parental genes are involved to a large extent in important metabolism and growth processes. A number of diseases, e.g. Beckwith-Wiedemann syndrome, Silver-Russell syndrome, Angelman syndrome or Prader-Willi syndrome are caused by imprinting defects. We also offer specific methylation-sensitive procedures and years of expertise in the diagnosis of epigenetic diseases.

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