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Cardiac arrest is a potentially fatal condition in which your heart suddenly stops
beating.
Arrhythmic cardiomyopathy is a heart disease that particularly affects young athletes and can lead to sudden death
.
The University of Basel recently genetically engineered mice to develop a disease
similar to that of humans.
As a result, the team was able to identify previously undiscovered mechanisms and potential therapeutic targets
.
Sevilla FC fans will never forget a match in August 2007 when 22-year-old Antonio Puerta collapsed on the pitch and died
in hospital.
The athlete was later found to have arrhythmic cardiomyopathy
.
One in every 5,000 people is affected by this genetic disorder, with men more
affected than women.
Arrhythmogenic cardiomyopathy results in arrhythmias
in cardiomyocytopenia, connective tissue, and fatty deposits within the myocardium.
This can lead to sudden cardiac death, usually during exercise," says
Volker Spindler, anatomist and head of the Cell Adhesion Group at the Department of Biomedical Sciences at the University of Basel.
Today, it is recognized that many genetic mutations can trigger this
.
Even if there is an early diagnosis, it cannot be treated; Only symptom management options are available
.
"Patients are advised to avoid any competitive or endurance sports and must take medications
such as β-blockers.
In the right circumstances, catheter ablation or implantable defibrillators can be performed," says
Gabriela Kuster, a cardiologist and head of the Myocardial Research Group in the Department of Biomedical Sciences.
Sometimes the only option is a heart transplant
.
The starting point for the project is that many mutations affect structures
known as desmosomes.
These are clusters of proteins on the surface of cardiomyocytes that ensure tight junctions
between cells.
"You can imagine these clusters are like a piece of Velcro," said Dr.
Camila Sinner and lead author of the study, which just appeared in the journal Circulation
.
This led to the theory that the mutation reduced adhesion between cells, which weakened the heart muscle
.
To test this hypothesis, Spindler's team introduced a mutation similar to that found in patients into the genomes of mice
.
Kuster's team then examined the animals' heart function
.
Results: The transgenic animals exhibited arrhythmic heart disease
similar to human arrhythmic cardiomyopathy.
In addition, microscopy and biochemical analysis did show a decrease
in adhesions between cardiomyocytes.
The researchers also observed myocardial scarring
typical of the disease.
Their next step is to study the molecular differences
between diseased and healthy myocardium.
Mice with this mutation showed an increase
in a specific protein in the velcro-like structure of cardiomyocytes.
This leads to connective tissue deposits and scarring of the heart through a series of events
.
Adding a substance that blocks this cascade prevents the disease from worsening — which is why Spindler sees a potential new treatment
here.
"Still, there is still a long way to go
before it can be considered for human applications," he noted.
But we now have better options to study the disease in more detail to improve our understanding of
the underlying mechanisms.
”
References:
Defective Desmosomal Adhesion Causes Arrhythmogenic Cardiomyopathy by Involving an Integrin-αVβ6/TGF-β Signaling Cascade” by Camilla Schinner, Lifen Xu, Henriette Franz, Aude Zimmermann, Marie-Therès Wanuske, Maitreyi Rathod, Pauline Hanns, Florian Geier, Pawel Pelczar, Yan Liang, Vera Lorenz, Chiara Stüdle, Piotr I.Maly, Silke Kauferstein, Britt M.
Beckmann, Farah Sheikh, Gabriela M.
Kuster and Volker Spindler, 21 October 2022, Circulation.
