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Innovating in Mexico

A genetic mutation associated with Alzheimer’s is diagnosed for the first time in Mexico

Under the guidance of Dr. Marisol López López, the Laboratory of Molecular Genetics at the Universidad Autónoma Metropolitana has identified a very peculiar mutation in individuals affected by Alzheimer's disease in the Mexican population that had never been described before anywhere in the world. This finding will benefit both the diagnosis and development of a more effective and personalised type of pharmacogenetics.

For Dr. Marisol López López, a researcher at the Universidad Autónoma Metropolitana in Mexico City, the prospects for the development of pharmacogenetics lie in personalised medicine.

However, she warns, we must not lose sight of the fact that some of the drugs developed can lead to severe adverse reactions or ineffective therapeutic activity in patients.

In recognition of her outstanding career, Dr López López was recently named Distinguished Professor by the Academic College of the Autonomous Metropolitan University (UAM).

From the beginning, Dr. López López focused her research on the anomalies of sexual differentiation in humans and, later, on the genetic analysis of psychiatric and neurological illnesses such as Alzheimer's and Parkinson's diseases, epilepsy, schizophrenia, depression, and Huntington's disease, among others.

The researcher explained that Alzheimer's disease is the most common dementia and that it is particularly relevant due to the number of people who suffer from it now and that will develop it in the coming decades due to the increase in life expectancy. This is the case because although there is no direct relationship, the incidence increases with age. Most cases of the disease are sporadic, meaning that it is not linked to the patient’s family history, but a minority are due to mutations in genes, i.e. they are genetic of Mendelian inheritance and these occurrences have an age of onset before the age of 65 and there may be people in their 30s or 40s who have the condition.

"What we have done in my research group goes in two directions"; on the one hand, on the genetic side, to study what mutations are present in the Mexican population in particular, which is very important for diagnostic purposes. On the other hand, in terms of pharmacogenetics, to investigate the relevant genetic factors and observe what influence they have on the response to the drugs used to treat the neuropsychiatric diseases mentioned above.

The result of these studies was the identification of a very peculiar mutation in individuals with Alzheimer's disease in the Mexican population that had not been reported in the rest of the world.

Dr. López López stressed that this discipline is aimed at studying the genetic bases that influence individual response to pharmacological therapy; "not everyone responds in the same way to a drug and the three possible scenarios are efficacy, inefficacy or the manifestation of adverse reactions that can be mild, moderate or even lethal".

Although the trend in this field of knowledge is towards personalized medicine, in the case of these drugs, it is necessary to first make a genetic profile to guide the prescription in terms of the type of drug and its dosage (dosage) "and to do it from the beginning, without waiting to see if it works well or not with a specific individual".

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