Rare genetic disease of the nervous and heart system discovered in children

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Rare genetic disease of the nervous and heart system discovered in children
BREAKTHROUGH: Researchers Ángeles García-Cazorla and Aurora Pujol. CREDIT: El Hospital Sant Joan de Déu Barcelona Facebook

A rare genetic disease of the nervous and heart system has been discovered in children.

RESEARCHERS from Idibell and Hospital Sant Joan de Déu in Barcelona have discovered a new severe rare genetic disease of metabolism that affects children and is characterised by problems in brain and heart development.

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The gene that causes the disease, SHMT2, has been identified through the analysis of the genome of five patients -three Spanish, one French and one American.

The study of patients from overseas was made possible by the GeneMatcher platform, which connects clinicians and researchers from all over the world interested in the study of the same genes.

Children with SHMT2 deficiencies suffer from cognitive development problems, motor disorders and progressive heart disease that may even need transplantation.


To analyse the genome, the Idibell team developed sophisticated algorithms aimed at identifying the DNA changes in the genes most likely to cause 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 function in the development of the brain.


In the patients’ cells obtained through 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).

This discovery has been carried out by the team led by the geneticist and researcher Aurora Pujol.

“Thanks to genomic medicine we can diagnose patients who have been unresponsive for many years, and better understand the mechanisms that govern essential biochemical reactions and the development of organs and tissues,” she explained.

Àngels García-Cazorla, a neuropediatrician who controls the three diagnosed patients and co-leader of the research, adds that “Since these are known biochemical pathways, we are working on experimental treatments to supplement the deficient metabolites with the aim of improving the quality of life of the patients”.

On the other hand, the team of researchers has also found alterations in the mitochondria, the organelles responsible for energy production and essential for most of the biochemical functions essential to life.

The study, published in the scientific journal Acta Neuropathologica and financed by funds from the Carlos III Health Institute, Ciberer and the project of undiagnosed neurological diseases of Catalonia, URD-Cat, identifies the gene that causes the disease, SHMT2, and opens the way to work on experimental treatments that will improve the lives of patients.

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