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Genetic body/brain connection identified in genomic region linked to autism.

Identifying relevant genetic interactions contributing to neurodevelopmental disorders is a huge challenge facing scientists. Now, a study from researchers at the Whitehead Institute identifies a direct link between deletions in the genes fam57ba and doc2a, and brain-body disorders, such as seizures, hyperactivity, enlarged head size, and obesity. The team states their findings point to future analyses on the molecular pathways these genes use to control synaptic activity and their cellular targets. The opensource study is published in the journal Human Molecular Genetics.

Previous studies show both the fam57ba and doc2a genes reside in the 16p11.2 region of human chromosome 16. Around 4 million people worldwide, have deletions in these loci, which is associated with autism spectrum disorders, developmental delay, intellectual disability, seizures, and obesity. The current study demonstrates one pair of 16p11.2 homologs can regulate both brain and body phenotypes, mirroring people with the 16p11.2 deletion.

The current study utilizes zebrafish to uncover genotype/phenotype connections amongst 16p11.2 homologs. Results show the genes fam57ba and doc2a in the 16p11.2 region could be key for brain development. Data findings show fish with only one copy of each gene exhibit hyperactivity, increased propensity for seizures, larger body and head size, and greater fat content.

Results show when both copies of only fam57ba are removed, the fish are much larger and fatter than the fish possessing both copies of these genes. The lab explains fam57ba provides some intriguing hints as to how metabolism and brain function could be intertwined due to the production of an enzyme involved in lipid production and metabolism.

The team surmises their study shows the doc2a and fam57ba genes interact to regulate hyperactivity, seizure propensity, as well as head and body size, with a greater contribution from fam57ba. For the future, the researchers state their data suggests there may be metabolic genes involved in human neurodevelopmental disorders.

Source: Whitehead Institute

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