They sequenced and decoded, for the first time in the country's, the entire genome of three children with autistic disorder and epilepsy and they discovered genetic alteration.


The experts sequenced and decoded for the first time in the country's, the entire genome of three children with autistic disorder and epilepsy and they discovered the genetic disorder that can cause disease.

"In the first half of 2014 we identified disturbance, discriminate the inheritance mechanism and provide clinical value of genetic information, which served to meet the diagnostic odyssey of this family and put an end to many years of trouble" said Marcelo Kauffman, chief of Surgery and Laboratory of Neurogenetics at the Ramos Mejía Hospital.

Kauffman said that so far there isn´t currently any specific curative treatment, and study was only experimental but not therapeutic implications" the finding is auspicious to complete the diagnostic search and pave the way for possible future solutions."

The study was published in the journal PLoS One, whose authors belong to the Bioinformatics Platform Argentina, the Argentine Consortium for Genomic Technology and Neurogenetics of Ramos Mejía.

The project was led by Kauffman; chemical specialist in bioinformatics Adrian Turjanski; and molecular biologist Martin Vazquez, all members of the National Council of Scientific and Technical-CONICET.

The study of the complete genomes of three brothers identified an alteration in the gene SHANK3.

According to the authors, who analyzed more than three million variants, the results suggest that this alteration would result in a variation in appropriate synaptic levels of glutamate, a key neurotransmitter communication between neurons. Experts explain that this would be the cause of that condition.

Kauffman said, "although there is no specific treatment to correct alterations in SHANK3, treatments under investigation, once approved, could benefit" to patients in the future.

"Not every patient with autism benefit from a genomic study, because autism is not a rare disorder and requires in itself a genetic diagnosis, this case had autism, epilepsy and recurrence in the family," said Kauffman.

The autism spectrum disorders are characterized by reduced sociability of the individual, repetitive behaviors and severe flaws in language development, including clinical manifestations.

Rare diseases have a prevalence lower than five people per 10,000 inhabitants; in most cases are caused by genetic alterations that are slow to be diagnosed.

Advances in genomics now allow to recognize the genetic causes of these rare cases, what is "causing a paradigm shift in medical practice" raised Kauffman, also a professor in the department of Neurology, Faculty of Medicine UBA.

Turjanski a doctorate in chemistry, bioinformatics specialist, is devoted to study and predict (through computer algorithms) the structures of bio-macromolecules, such as proteins and DNA; He is a professor in the Faculty of Natural Sciences of the UBA and scientific repatriated 600th since 2003.

These results open new paths that directly impact on the clinical care of patients, improving diagnostic processes and treatment of rare diseases, through the use of local technology with highly qualified human resources, "said the Ministry of Science and Technology of Argentina

Source: Telam