Post by emonseo10 on Jan 11, 2024 4:23:52 GMT -7
Researchers from Idibell and the Sant Joan de Déu Hospital integrated into the Networked Biomedical Research Center for Rare Diseases (Ciberer) have discovered a new serious rare genetic disease of metabolism, characterized by problems in brain and heart development, which affects children.
The study, published in the scientific journal 'Acta Neuropathologica' and financed with funds from the Carlos III Health Institute, Ciberer and the project for neurological diseases without diagnosis of Catalonia, URD-Cat, identifies the gene that causes the disease, SHMT2 , and opens the way to work on experimental treatments that improve the lives of patients.
Children with SHMT2 deficiencies suffer from cognitive development problems, motor disorders, and progressive heart disease that may even require transplantation.
The gene has been identified through the analysis of the genome of 5 patients - three Spanish (Sant Joan de Déu), one French (Nantes Hospital) and one North American (Mayo Clinic) -, who have been located thanks to the GeneMatcher platform, which It brings together clinicians and researchers from all over the world interested in the study of the same genes.
For genome analysis, the Idibell group Professional Person Email List has developed sophisticated algorithms aimed at identifying DNA changes in the genes most likely to cause a disease.
The SHMT2 gene directs the production of an enzyme that controls the metabolism of folic acid and amino acids, essential elements to form proteins, with a key role in brain development.
In the patients' cells obtained by skin biopsy, the researchers have been able to determine the altered function by measuring the metabolites of the pathway in the biochemistry laboratory of the Hospital Sant Joan de Déu (HSJD).
On the other hand, the team of researchers has also found alterations in mitochondria, the organelles responsible for energy production and essential for most of the biochemical functions essential for life.
"Thanks to genomic medicine we can diagnose patients who had not responded for many years, and better understand the mechanisms that govern essential biochemical reactions and the development of organs and tissues," explained the geneticist and co-leader of the study, Aurora Pujol.
"As these are known biochemical pathways, we are working on experimental treatments to supplement deficient metabolites with the aim of improving the quality of life of patients," said the neuropediatrician who follows the three patients diagnosed at HSJD and is co-responsible. of the investigation, Àngels García-Cazorla.
The study, published in the scientific journal 'Acta Neuropathologica' and financed with funds from the Carlos III Health Institute, Ciberer and the project for neurological diseases without diagnosis of Catalonia, URD-Cat, identifies the gene that causes the disease, SHMT2 , and opens the way to work on experimental treatments that improve the lives of patients.
Children with SHMT2 deficiencies suffer from cognitive development problems, motor disorders, and progressive heart disease that may even require transplantation.
The gene has been identified through the analysis of the genome of 5 patients - three Spanish (Sant Joan de Déu), one French (Nantes Hospital) and one North American (Mayo Clinic) -, who have been located thanks to the GeneMatcher platform, which It brings together clinicians and researchers from all over the world interested in the study of the same genes.
For genome analysis, the Idibell group Professional Person Email List has developed sophisticated algorithms aimed at identifying DNA changes in the genes most likely to cause a disease.
The SHMT2 gene directs the production of an enzyme that controls the metabolism of folic acid and amino acids, essential elements to form proteins, with a key role in brain development.
In the patients' cells obtained by skin biopsy, the researchers have been able to determine the altered function by measuring the metabolites of the pathway in the biochemistry laboratory of the Hospital Sant Joan de Déu (HSJD).
On the other hand, the team of researchers has also found alterations in mitochondria, the organelles responsible for energy production and essential for most of the biochemical functions essential for life.
"Thanks to genomic medicine we can diagnose patients who had not responded for many years, and better understand the mechanisms that govern essential biochemical reactions and the development of organs and tissues," explained the geneticist and co-leader of the study, Aurora Pujol.
"As these are known biochemical pathways, we are working on experimental treatments to supplement deficient metabolites with the aim of improving the quality of life of patients," said the neuropediatrician who follows the three patients diagnosed at HSJD and is co-responsible. of the investigation, Àngels García-Cazorla.