Scientific study involving Portugal identifies two first patients with new syndrome – Current Affairs
The study, published in the open access scientific journal Science Advances, was contributed by the Instituto Gulbenkian de Ciência (IGC), where most of the work was carried out, by the Algarve Biomedical Center Research Institute. and institutions in Austria and the Netherlands.
The small and intellectual children (who have abnormal children who have a couple of children, children, children, children) and the mother. which encodes a protein “responsible for monitoring problems in cell division”.
“This was a very surprising finding, as function was found to be such an essential protein to the investigated Lusa of the Oliveira Chromosomes, that in I.
According to biochemistry, which in these first two tests were identified with the work that lead to “functional mutations”, these graves show the in both copies of the UB1 gene, that the “UB1, development at the origin” did not prevent the organism from the organism”, although the boy and the girl have disabilities: microcephaly, intellectual disorders and “other characteristic clinical anomalies” of each.
The three-year-old boy and the 16-year-old boy were being followed in Austria and the Netherlands.
For Raquel Oliveira, “it is possible that more children, or even adults, have this mutation in their genome” and that the study “encourages the medical community to include” the BUB1 gene.
IGC is very difficult in diagnosis, which is a rare disease of diagnosis or diagnosis, diagnosis and diagnosis very different from rare diseases.
“The discovery of a new gene associated with a microcephaly of a new gene associated with a description of additional medical characteristics may be useful with UB1 people more easily”, explained Oliveira.
The study, like other problems, suggests that development “is very likely to occur during mitosis,” the process of cell division.
The IGC explains that when cells divide “it is essential that the genetic information is equitably distributed among the new cells.”
“It is at this point that errors in division can occur, which can damage the characteristics of your DNA”, which lead to information, “or a change in your number”. Such errors are associated with several diseases.
Sara Carvalhal from the study and former IGC investor, moved to Biomédico do Algarve to her own laboratory, where she grew up in mitosis on the first creator center in mitosis for the first author as a creator as rare.
When the focus is still working in the laboratory of the IGC Raquel Oliveira, “the fundamental aspects of cell division and the methods that ensure the fidelity of the process” are designed, Sara Carvalhal is always faithful to the process, we observe cases in the glue together with the stickers, which maintains the chromosomes, to verify with protein a hypothesis tested with the fruit fly.
In a given-fruit, a partial investigator found that a “loss of chromosomes with chromosome experience” “which is associated with a movement and division of ‘disjointed’ chromosomes”.
Collaborative fruits manufactured with strange products, or I received cells from a patient of today’s object released and from genetic chromosomes that appear to have genetic problems that keep the same problems in the same glue.
“For us, it was surprising when we found out that it was the [gene] BUB1 that was mutated”, Sara Carvalhal told Lusa.
Patients are genome doctors to identify as a useful cell of two useful research cells BUB1 and used for both research cells, through analysis for cellular behavior during mitosis.
“We have access to fundamental experiments to discover how the errors presented in this study were disclosed in the context of the Algarve, which, already gives to the study carried out now.
Deopathy with Sara Car, the discovery made “a better understanding of the differences and cases between agreements of this syndrome” and of other situations that are already in agreement with the syndrome and of problems already presented that have clearly similarity with the syndrome observed in mosaic, the variegated in mosaic, the variegated primary microcephaly.
A “deeper characterization of this new syndrome”, still without a deeper name due to the few cases identified, specifically, if there was no greater study in two cases identified both copies of the BUB1 gene are linked to “a higher probability of development”.
According to researcher Raquel Oliveira, changes in one of the copies of the BUB1 gene are related to the functioning of cancer. The “expression is linked” by BUB1 to spontaneous abortions, advanced to the Gulês Institute of Science in Communication
Another investigation investigated by the IGC, Alexandr Jorge Tava, who works also does not work for Portuguese, signed by Raquel Oliveira, published in Sciences.