Gene Dosage at 22q11.2 Helps Determine Schizophrenia vs Autism Brain Differences

MedicalResearch.com Interview with:

Carrie Bearden, Ph.D. Professor, Departments of Psychiatry and Biobehavioral Sciences and Psychology Semel Institute for Neuroscience and Human Behavior University of California, Los Angeles

Dr. Bearden

Carrie Bearden, Ph.D.
Professor, Departments of Psychiatry and Biobehavioral Sciences and Psychology
Semel Institute for Neuroscience and Human Behavior
University of California, Los Angeles

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: A 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population.

Thus, we became interested in trying to understand whether there were differences in brain development that might predispose to one condition vs. the other.

MedicalResearch.com: What should readers take away from your report?

Response: This study offers the first evidence that brain morphology differs meaningfully as a function of gene dosage at the 22q11.2 locus.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: Elucidating the pathophysiology of developmental neuropsychiatric disorders is very challenging, due to considerable heterogeneity.

The robust, opposing effects on brain structure that we observed highlight the utility of investigating the influence of reciprocal chromosomal imbalances on neural processes and how these may ultimately contribute to disease pathogenesis.

We are now conducting prospective longitudinal studies to track divergent neurodevelopmental trajectories over time in CNV carriers. Also, in vitro modeling of reciprocal CNVs at the 22q11.2 locus offers a way to directly characterize cellular phenotypes.

No disclosures.

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Mapping 22q11.2 Gene Dosage Effects on Brain Morphometry

Amy Lin, Christopher R. K. Ching, Ariana Vajdi, Daqiang Sun, Rachel K. Jonas, Maria Jalbrzikowski, Leila Kushan-Wells, Laura Pacheco Hansen, Emma Krikorian, Boris Gutman, Deepika Dokoru, Gerhard Helleman, Paul M. Thompson and Carrie E. Bearden

Journal of Neuroscience 23 May 2017, 3759-16; DOI: https://doi.org/10.1523/JNEUROSCI.3759-16.2017

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