A genetic study carried out by a Mexican-American scientific consortium has identified a gene mutation in mestizos and indigenous people of Mexico responsible for the development of Maturity-Onset Diabetes of the Young (MODY). If a child inherits this mutation has a risk develop this rare form of diabetes before they are 45, whatever their weight and life style, requiring the use of insulin soon.

In the first part of the study, samples of the DNA of more than eight thousand Mexicans were taken, half of them based in Mexico City and the other in Los Angeles (LA), California; In the second stage, just over four thousand nationals participated, of which 75% lived in Mexico City and the rest in LA.

This great study has been sponsored by the SIGMA Consortium (Slim Initiative in Genomic Medicine of the Americas), which integrates researchers from the Broad Institute of Harvard University and the Massachusetts Institute of Technology (MIT), The National Institute of Medical Science and Nutrition Salvador Zubiran (INCMNSZ), and the Institute of Biomedical Research of the UNAM.

It took a long time to collect the samples; and then, based on genetic information plus clinical data, look for the variant among millions of figures generated. Once we had them the entire DNA was sequenced and it took us a year to process the information and infer what the needle in a haystack may be,” says Mexican scientist Karol Estrada, a researcher at the Analytical and Translational Genetics Unit of the Massachusetts General Hospital and at the Broad Institute in Boston.

The research, published in the Journal of the American Medical Association, reported that the mutated SLC16A11 gene occurs in 30 percent of the mestizo population and up to 50 percent of the Mexican indigenous.

Prevalence in Mexico is unknown, and few countries have records of its presence, because to identify this type of diabetes it has to be done a study of the whole family. This is why many people with this condition are treated as type 2 diabetics.

If there was a DNA genetic test, the type of diabetes could be determined in minutes, and then the treatment to be followed, with the correct dose to improve the patient’s condition, explained Estrada.

In the second part of the international study we are working on a genetic diagnostic tool that costs less than 100 pesos and does not exist yet. To achieve this, it is easier for us to know that there is a single gene variant for the Mexican population, and we do not have to do tests for many other genes“, said Dr. Karol Estrada.


Source: Agencia ID