In medicine, the phenomenon of genetic alteration that is detected with a high frequency in a group with geographical or cultural isolation (present or past) that descends from one or more ancestors carrying the altered gene is known as the founder effect. And this is what scientists from Gran Canaria have found among patients from the south of Gran Canaria. In the south of the island there are high cholesterol levels, usually due to cholesterol not being eliminated correctly in the liver due to a shortage of receptors.
This is indicated by research by scientists González Lozano, González Lleó, Sánchez Hernández, Brito Casillas2, Hernández Baraza, Boronat Cortés and Wägner Fahlin, respectively from the Endocrinology and Nutrition Service of the Insular Maternal and Child University Hospital Complex of Gran Canaria, University Institute of Biomedical and Health Research (IUBS and University of Las Palmas de Gran Canaria (ULPGC).
La research, to which Maspalomas24H has had access, highlights that a population with familial hypercholesterolemia (FH), low intensity cholesterol to explain it in a simple way, in the south of the island of Gran Canaria it was observed that a single mutation, called p.(Tyr400_Phe402del), "was responsible for the disease in a very high percentage of patients, being considered a founder mutation. "Patients who presented this mutation also had a high prevalence of diabetes (17,8%), higher than that observed in the general Canarian population (13,2%) and also higher than other populations with FH."
This has been known with the clinical, physical and biochemical data of index patients, carriers of the prevalent mutation and under follow-up by the Lipid Unit of the Complejo Hospitalario Universitario Materno-Infantil (CHUIMI) of Gran Canaria and some of their first family members. degree. The sample highlights "the prevalence of type 2 diabetes mellitus was higher among those classified as having hypercholesterolemia (31,5%) compared to subjects without hypercholesterolemia (6,7%) with a p-value of 0,053." This group also had "a higher prevalence of cardiovascular disease and higher levels of triglycerides." There were no significant differences between groups in baseline plasma glucose and HbA1c. "A greater prevalence has been observed among members" with high cholesterol in the same families.
The main defect is caused by a mutation in the gene that encodes the LDL receptor (rLDL), which is responsible for removing cholesterol from the blood at the liver level. By having a smaller number of receptors, whether partial or total, LDL cholesterol increases considerably in the blood, favoring its deposit in the arteries and the development of a plaque that can narrow the lumen of the arteries, which produces atherosclerosis. . A person affected by FH has a 50% chance of transmitting the abnormal gene to his descendants, sons and daughters, and a 50% chance of passing on the correct genetic information.
Therefore, approximately half of the members of a family will inherit FH. If a child or adult, the child of a patient with FH, has normal cholesterol levels, it is very likely that she has inherited the normal gene, and therefore will not develop the disease or transmit it to her offspring. Some studies have shown that there may be up to 8% of people carrying a mutation with normal cholesterol levels. In this case they can transmit the defective gene to their offspring. Therefore, carrying out genetic diagnosis is very important.
