How common are rare diseases? - ADNTRO

How common are rare diseases?

As we know, genes contain the information for the manufacture of all the proteins in our body. Among them, there are proteins called ubiquitin ligases, whose main function consists in the regulation of various biological processes by controlling the expression of different proteins. This mechanism is known as ubiquitination and the marked proteins are degraded in the proteasome (a protein complex that is responsible for degrading unnecessary or damaged proteins).

There are many human genetic diseases caused by the appearance of pathogenic variants in genes that encode these ubiquitins. And within this huge family of genes, we are going to highlight one of them, the gene RNF125, which until a few years ago, had not been linked to any disease.

However, next-generation sequencing or parallel mass sequencing (NGS) studiesNext Generation Sequencing”) Has made it possible to identify several families with variants in this gene, which present clinical characteristics common to all of them, among which the following stand out: postnatal overgrowth, neonatal hypoglycemia, recurrent inflammatory diseases, neurodevelopmental alterations and characteristic clinical facial characteristics.

This disease, caused by mutations in the gene RNF125, is currently known as Tenorio syndrome, name coined by John Hopkins University and the McKusick-Nathans department of genetic medicine in honor of the group of researchers and specifically the first author of the original publication.

Currently, there are approximately some 19 cases worldwide, which implies great importance to give visibility to this type of rare diseases. The knowledge generated by genetic research is fascinating, as demonstrated in the description of this new disease.

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