Autism and hyperactivity share alterations in the same genes

Genomic research reveals that people with autism and those with attention deficit hyperactivity disorder share alterations in the same genes.

  • A study conducted in Denmark by iPSYCH researchers confirms that in autism and ADHD there is a greater contribution of a certain type of mutations that in both diseases are concentrated in the same genes, which suggests that they share the same biological mechanisms.
  • The sequencing of the exome of a group of 13,000 children with autism or ADHD , with both pathologies and without disease, has made it possible to identify genes that intervene in their development, helping to deepen the study and knowledge of these diseases.

People with autism and those with attention deficit hyperactivity disorder (ADHD) share a genetic connection, this has been the conclusion of a study carried out in Denmark in which the exome of approximately 8,000 people with autism was mapped and / or ADHD, and 5,000 people without either disorder.

The study developed by the Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) confirms that there is an association between the two pathologies, linked to variants in the same genes. The genetic connection between both pathologies had already been discovered previously, the results of this study confirm the evidence and show that in both pathologies there are a similar amount of mutations that give rise to truncated proteins (defective, that do not exercise their function correctly), that are concentrated in certain genes, which suggests that the biological mechanisms involved are common.

The most relevant finding is the significant relationship of the gene MAP1A with the development of autism and ADHD. This gene is mainly expressed in the brain and is involved in the formation of the physical structure of nerve cells and is important for brain development. Mutations in MAP1A significantly increase the risk of developing autism and / or ADHD, this risk is up to 15 times higher than people who do not have mutations.

One of the keys to the study lies in the use of the sequencing of the complete Exome, which has allowed to identify interactions and similarities between different genes, impossible to find in tests based on panels of very small genes.

The Exome offers a complete vision of our genes -explains Bibiana Palao, CPO (Chief Product Officer) of Veritas Intercontinental- and constitutes a key tool in the investigation of rare diseases in which common biological mechanisms are suspected, since it facilitates the discovery of new genes and variants in from which the contribution of each gene to the different pathologies can be observed ”.

Since its foundation, Veritas has promoted the complete sequencing of the gene noma and exome not only for patients with suspected hereditary disease, but also for healthy people, with the aim of deepening the knowledge of the relationship between our health and our genetics. This initiative will allow closing a virtuous circle in health care, in which the more people have the genome or exome sequenced, the more valuable and extrapolated will be the information available for both prevention and diagnosis of diseases.

About Veritas Intercontinental

Veritas Intercontinental is the international subsidiary of Veritas Genetics, The Genome Company which operates in Europe, Latin America, Japan and the United Arab Emirates. Its mission is to promote whole genome sequencing and offer people information that empowers them to maximize the quality and duration of their lives and that of their families, changing the way the world views genetics.

Veritas was the first company to offer whole genome sequencing and interpretation to consumers and their physicians and leads the field of genetics, pushing the boundaries of science and technology and lowering the cost of the genome.

Founded in 2014 by leaders in genomics from Harvard Medical School operates worldwide from offices in the United States, Europe, and China. The company has been recognized MIT Technology Review as one of the 50 Smartest Companies in 2016 and 2017, by Fast Company as one of the companies of innovative health in the world in 2018, and by CNBC as one of the companies Disruptor 50 e

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