Genetic variants identified that will help decrease psychosocial dysfunction in patients with bipolar disorder

A study led by the Pere Virgili Institute of Health Research (IISPV), the Hospital Institut Pere Mata and the Center for Biomedical Research in Mental Health Network (CIBERSAM) will contribute to improving the quality of life of people with bipolar disorder as it has made it possible to identify genetic variants of the discoidin domain receptor 1 (DDR1) gene related to their cognitive abilities and psychosocial function patients. Cognitive abilities are the mental processes that have to do with memory, concentration, and information processing. A deterioration of these in turn implies that the psychosocial function of patients is affected, understood as the set of skills of the person to carry out routine tasks and relate at a social level.

The results of this study could contribute to the detection of patients who are more likely to suffer from cognitive and psychosocial impairment. This would help to intervene from the beginning, avoid severe complications, allow more personalized and effective treatments to be administered (thus reducing the costs that this type of disease entails for the public health system) and ultimately improve the quality of life of patients. To do this, it is necessary that genetic diagnosis is used as a support tool in the mental health environment (it currently happens very rarely).

Before implementing this type of clinical trial in health centers, however, the results of this study must continue to be contrasted in future research involving more patients and with more varied profiles. To carry out this study, 3,035 samples were analysed, provided by CIBERSAM. “The team’s goal is that the genetic variants identified in the DDR1 gene, along with genetic variants identified in other studies, are used as an early detection tool in our health systems so that people with bipolar disorder have a better quality of life,” explains Dr. Selena Aranda Castel, researcher at the Genetics and Environment in Psychiatry Group (GAP) at IISPV, in charge of the research (led by Dr. Elisabet Vilella).

The DDR1 Gene and Its Relationship to Bipolar Disorder

DDR1 is a gene that works in one of the most important cells in the brain: oligodendrocytes. They are the cells responsible for coating neurons with myelin, a layer composed of lipids that helps information be transmitted more quickly and efficiently.

Bipolar disorder is one of the leading causes of disability in the world, affecting 2% of the population; However, most of the treatments available to treat some of the difficulties that patients encounter (such as cognitive decline) are few or ineffective. One of the factors that contributes to the low efficacy of treatments is that, in most cases, patients do not receive them on time, a fact that ends up affecting their quality of life.

The results of this study were recently published in the journal Molecular Psychiatry, one of the best in the field of psychiatry.

In this research are involved 9 research groups from CIBERSAM (in parentheses the researchers who lead them): Institut d’Investigació Sanitària Pere Virgili (IISPV) (Dra. Elisabet Vilella); Hospital Universitario de Álava (Dra. Ana González-Pinto); Fundación para la Investigación y Docencia Maria Angustias Jiménez (FIDMAG) (Dra. Edith Pomarol); Universidad de Oviedo (Dra. Pilar Alejandra Sáiz); Hospital Universitario de Bellvitge (Dr. José Manuel Menchón); Consorcio Mar Parc de Salut de Barcelona (Dr. Víctor Pérez); Hospital Gregorio Marañón (Dr. Celso Arango); Universidad de Valencia (Dr. Juan Salvador Nacher) and Hospital Clínic de Barcelona (Dr. Eduard Vieta)

Bibliografic reference: Aranda S, Jiménez E, Canales-Rodríguez EJ, Verdolini N, Alonso S, Sepúlveda E, Julià A, Marsal S, Bobes J, Sáiz PA, García-Portilla P, Menchón JM, Crespo JM, González-Pinto A, Pérez V, Arango C, Sierra P, Sanjuán J, Pomarol-Clotet E, Vieta E, Vilella E. Processing speed mediates the relationship between DDR1 and psychosocial functioning in euthymic patients with bipolar disorder presenting psychotic symptoms. Mol Psychiatry. 2024 Feb 19. doi: 10.1038/s41380-024-02480-1. Epub ahead of print. PMID: 3837430

Image: Dr. Esteban Sepúlveda, Dr. Elisabet Vilella and Dr. Selena Aranda, from the GAP Research Group.