A team from the Bellvitge Biomedical Research Institute (Idibell) has developed a model of heart made with mother cells that reveals why the same hereditary heart disease affects two brothers differently.
The research, the results of which have been published in the scientific journal ‘Circulation Research’, shows that the greater severity of heart disease in one of the brothers is due to a genetic variant, in addition to the original mutation, only present in him, has indicated this Tuesday the Idibell in a statement.
Thanks to the model, it has been possible to find the cause of the most severe pathology without the need to carry out a larger epidemiological study, which would have required a much larger number of patients and invest much more time and money.
The two brothers suffer from hypertrophic cardiomyopathy, the most common hereditary heart condition, which is caused by a mutation that both present, but in one case the pathology is much more severe than in the other.
In order to explain these differences, a team from Idibell has generated a cell model of the heart from stem cells from the two brothers.
“Knowing the individual genetic variants responsible for each of the pathological manifestations is the first step to find the most effective treatment for that specific patient”has indicated the project leader, Ángel Raya.
To generate the protagonist model of this work, a skin biopsy was performed on each of the siblings, and the cells obtained were transformed into stem cells that later differentiated into cardiomyocytes, heart cells.
The research team took advantage of the latest gene editing tools to identify the genetic variants of each sibling and play a game of adding or removing them in the heart model to resolve which ones were responsible for each pathological manifestation.
Thus, they found that the most severely affected sibling was the only one with an additional genetic variant to the original mutation that caused their cells to not contract correctly.
“This type of model allows us to get closer to personalized medicine every day, analyzing each case in depth and offering a more effective individualized treatment with fewer unwanted side effects”Raya added.
Source: EFE
Source: Gestion
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