Health Colombia , Bogotá D.C., Wednesday, May 21 of 2014, 10:19

APOEe4 and TOMM 40 genes could be related to Alzheimer’s development

It is estimated that Alzheimer impacts 24 million people in the world of which 250,000 are in Colombia

UN/DICYT A research project carried out by the UNal Genetics Institute’ (IGUN, for its Spanish acronym) Neurosciences Group determined that APOEe4 and TOMM 40 genes could be related to occurrence of Alzheimer’s Disease (AD).


The research project carried out by Jenny Consuelo Ortega Rojas as her Neurosciences thesis project was entitled, “Study of 10 single nucleotide polymorphisms -SNPs- in Alzheimer’s patients in a Colombian sample. Approach to haploid genotypes”.


She says that although these are preliminary data the relevance of her work lies in discovering another relevant Alzheimer's developmental gene, particularly in Colombia.


It is estimated that Alzheimer impacts 24 million people in the world of which 250,000 are in Colombia where the information on frequency and economic load of the disease is outdated.


Results of the study presented during the symposium entitled, “20 years of the Genetics Institute” suggest a significant link between the APOE (Apolipoprotein E) and TOMM40 (Translocase of Outer Mitochondrial Membrane 40) genes with LOAD pathology (late-onset sporadic AD), in the Colombian population.


Ortega says that Alzheimer’s is divided according to the age when the first symptoms appear. Therefore patients with symptoms before the age of 65 are considered early-onset or family Alzheimer patients and known as early-onset sporadic Alzheimer’s disease (EAOD) and are approximately 30% of the cases. The remaining 70% are LOAD patients and suffer the disease after 65 years of age. The latter is obviously more frequent and increasing due to growth of the elderly population.


Ortega’s research was comprised of 114 LOAD patients (with an average age of 74 years) and 114 controls. Additionally they analyzed 30 EAOD patients (with an average age of 59 years) and their control groups.


Using the snapshot genotypification method (SNPs identification technique) they assessed APOE polymorphisms (APOEe2, APOEe3, APOEe4), and ten internationally recently reported Genome-wide association studies (GWAS) in genes such as CLU, BIN1, PICALM, CR1 and TOMM40.


By implementing this technique they progressed in SNPs studies in the most cost-effective manner and also achieved important results for the “Colombian Genomics, Bioinformatics and Statistics National Program for Neuropsychiatric Diseases. Phase I: Alzheimer’s Disease.”


20 years of the UNal Genetics Institute


The project presented by Ortega was one of eleven showcased by research groups ascribed to the UNal Genetics Institute during the symposium entitled “20 years of the UNal Genetics Institute”, which was completed a few days ago with a series of conferences provided by six international invitees.


Topics such as “Role of rare varieties and low frequency in neurodegenerative diseases”, “Neurodegenerative disease brain aging: Contribution of genetic models” and “Alzheimer’s Disease: A different genetic and ageing approach”, were part of the conferences provided by researchers Bruno Benítez, from the University of Washington; Luis Barbeito of the Pasteur Institute of Uruguay and Diego Restrepo of the University of Colorado.


The UNal Genetics Institute, one of the most important genetic research institutes in Colombia and South America was established in 1993 by Professor Emilio Yunis.


“Since its inception it turned into a point of reference for genetics research in Colombia,” said Professor Juan José Yunis, who adds that IGUN was the first to introduce DNA testing for paternity studies in Colombia.


As an academic and scientific center it contributes infrastructure and research capability for the purposes of forming human resources at the undergraduate and graduate level. Another goal is to study the genetic multiethnic diversity of Colombia and preserve and characterize our biodiversity, animal, plant and microbiologic wealth.


In extension courses it offers specialized services in clinical, forensic and biodiversity areas and consulting in genetics.


In September past the Administrative Department for Science Technology and Innovation (Colciencias, for its Spanish acronym) recognized IGUN, currently headed by Gonzalo Arboleda, as one of the highest quality research centers in the country.