Center for Integrative Biology | U Mayor

U. Mayor researcher study suggests ketogenic diet may help treat a group of muscle diseases known as dysferlinopathies.


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The work of Julio César Cárdenas, from the Center for Integrative Biology (CIB), found a possible relationship between this regimen - low in sugars and high in fats - and dysferlinopathies, a group of muscular diseases that generate progressive muscle weakness and that have not yet They have no cure or medical treatment.

Since the researcher of the Integrative Biology Center (CIB) of the U. Mayor, Julio César Cárdenas, completed his Doctorate in Skeletal Muscle at the University of Chile, he was attracted to this organ and its ability to modify or generate reactions that impact to the whole organism.

This interest led him to work and collaborate with Dr. Jorge Bevilaqcua, who is an expert in dysferlinopathies, which correspond to a group of muscle diseases, the development of which causes progressive muscle weakness, due to the inability of skeletal muscle to produce the protein called dysferlin. , which is responsible, among other functions, to repair muscle cells that are normally damaged during exercise.

Thus, after a series of investigations, the CIB academic found a possible relationship between the ketogenic diet (low carbohydrate and high fat diet) and the treatment of this type of disease. This, because said diet on the one hand increases the function of the mitochondria, the cellular organelle in charge of producing energy, and on the other, decreases sugar levels, which apparently aggravates these pathologies.

Clinically, dysferlinopathies begin between the ages of 20 and 30 in a previously healthy patient. Initially, most complain of weakness in the lower extremities, difficulty running or climbing stairs, and pain. Although mortality is variable, in most cases patients die before their 50th birthday.

"Dysferlinopathies are detected after a clinical study and with biopsies, to detect the presence or absence of dysferlin. Apart from the sample, a genetic sequencing study is carried out to determine the absence or presence of the related gene and if it has mutations, which can also cause the disease, "explains Cárdenas, adding that" in Chile, the first patient with dysferlinopathy it was identified in 2009 by the group of Doctor Jorge Bevilacqua at the José Joaquín Aguirre Hospital ”.

Currently, more than 50 patients have been diagnosed with this disease, which indicates that the prevalence of dysferlinopathy in Chile is higher than suspected. In addition to this, until today there is no cure or treatment for this disease. "We must start from the notion that this is a rare disease," explains the academic.

Relationship with excess sugar

Thus, he says that, in collaboration with Dr. Jorge Bevilacqua and Dr. Pablo Caviedes from the U. de Chile, it was possible to determine that in patients with dysferlinopathy mitochondrial function is preserved in these cells, however excess sugar seems to affect it severely.

"Based on these results, we wonder if high levels of sugar in the diet could deactivate mitochondrial function, accelerating the progression of the disease," explains the CIB researcher.

It is for this reason that they began to study whether a change in diet could improve muscle function and began to conduct experiments on mice to come up with a therapeutic strategy that can help combat this disease. In this way, they reached the ketogenic diet, where the consumption of sugar is eliminated and the intake of fat is promoted, a diet that has been criticized.

"In relation to the cardiovascular risks associated with diet, the available data is contradictory and more studies are needed to be able to draw conclusions," says Dr. César Cárdenas. And he adds: “Considering the works that mention increased cardiovascular risk, the use of diet for therapeutic purposes should be controlled by a health professional. On the accumulation of fat, it is easy to avoid it, giving the diet a week in between, which maintains its benefits without the harmful accumulation of fat ”.

If the animal study they carry out confirms their preliminary results, by 2021 they would be in a position to test the diet and some of its variants in humans. The purpose of the project is to determine if the ketogenic diet, which will be provided to a mouse model that presents this disease, could be used as a therapeutic strategy to improve the quality of life of patients.

In addition, this research work will be funded by the Jain Foundation, an American organization dedicated to the investigation of this type of disease. "We want to better understand this disease and deliver possible solutions to something that has no cure," concludes Cárdenas.


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