Unlocking genetic mysteries of autism with zebrafish

By Shelby D Burns, Mon, May 21, 2012

The circumference of a baby’s head is one indicator of possible neurological developmental delays, for instance, autism. Now researchers have identified the genes responsible for head size at birth.

“In medical research, we need to dissect events in biology so we can understand the precise mechanisms that give rise to neurodevelopmental traits. We need expert scientists to work side by side with clinicians who see such anatomic and other problems, if we are to effectively solve many of our medical problems,” said Nicholas Katsanis, PhD, Professor of Developmental Biology, Duke University.

Researchers now know that not only does chromosome 16 contribute to autism and schizophrenia, it also influences changes associated with a newborn’s head size. The team was able to make the discovery by replacing genes in zebrafish to narrow down the possibilities of individual gene expressions. They found that a single gene was responsible for head size by regulating the production and destruction of new brain cells.

“This gene contributes to autism cases, and probably is associated with schizophrenia and also childhood obesity. Once you have the protein, you can start asking valuable functional questions and learning what the gene does in the animal or human,” said Katsanis.

The process for finding this gene can now be used to identify other genes. “Now we may have an efficient tool for dissecting them, which gives us the ability to improve both diagnosis and understanding of disease mechanisms,” concluded Katsanis. Hundreds if not thousands of chromosomal variations have been identified in individuals with a wide range of developmental issues. Now there may be a way to unlock the mystery of where they started and create strategies for treating the disabilities.

Source: MedicalNewsToday, Nature

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