CBS 3D The Jérôme Lejeune Foundation is exploring new options which could have an effect on the CBS enzyme but also enable to understand and then ameliorate cellular functioning in Down Syndrome.
In 2004, The Jérôme Lejeune Foundation was launching CiBleS21 whose aim was to find a treatment against intellectual disability for patients carriers of Down Syndrome. The aim was to inhibit the CBS functioning, this enzyme being synthesized in excess because of the presence of the third chromosome 21, i.e., three CBS genes instead of two.
A new study, as a complement to the programme, was launched last October. It concerns new methods which have recently been developed to explore intracellular functioning by studying a phenomenon, unknown until now: protein interacting with each other or « protein-protein interaction ». In order to understand how that works and then identify what specific dysfunctioning occurs in Down Syndrome, the Jérôme Lejeune Foundation, supported by its scientific council, decided to study not only the enzyme coded by the CBS gene but also other enzymes candidates for intellectual deficiency, in particular DYRK1A (or GIRK2) RCAN1, SYNJ1, ITSN, GLUR5, RUNX1, APP, GRIK1, FTCD, S100B, TTC3, SIM2.
In this enterprise, the Foundation will be collaborating with Hybrigenics, one of the world’s leader companies in this field. Hybrigenics is capable of testing dozens of millions of interactions using a highly complex protein data base. Thus, it will be possible to identify, with reliability, interaction partners for the candidate proteins and establish their field of interactions. We will then try to modulate these interactions to restore proper intracellular functioning. The foundation thus hopes to find new interesting leads in regards to therapeutic research for intellectual disability in Down Syndrome.