Brain Indication Discovered for Earlier Leigh Syndrome Detection

Virginia Tech researchers have identified a brain indication that may assist in the earlier identification of children with Leigh syndrome. Their findings were published in EMBO Molecular Medicine.

Understanding Leigh Syndrome

Leigh syndrome is a severe neurological disorder impacting mitochondria, the energy-producing components of most body cells. The disease typically manifests in infancy and can progress rapidly, resulting in limited treatment options and poor survival rates. Currently, prenatal tests for such mitochondrial disorders are not routinely administered.

Children with Leigh syndrome often appear to develop typically until 9 or 10 months of age, when symptoms emerge, leading to a rapid decline.

A clinical study from the Children's Hospital of Philadelphia indicated that early signs of neurodevelopmental delay can be observed before the disease impacts motor and respiratory functions.

The Research Initiative

Researchers, led by Alicia Pickrell, an associate professor at Virginia Tech's School of Neuroscience, aimed to explore these early signs, believing that the mutations do not impact patients suddenly at older ages. The team hypothesized that alternative tools or brain areas might reveal earlier indicators.

Working with Paul Morton and Sahitya Biswas, the researchers evaluated Leigh syndrome symptoms in a mouse model. They observed developmental defects and reduced activity within specialized neural stem cells soon after birth.

Key Discovery

A malformed area was identified, centered on the corpus callosum, a bundle of nerve fibers connecting the brain's left and right sides. Microscopy revealed a pattern of improper connections in this nerve tract. Pickrell noted that the neural stem cells were not generating the expected cell types.

This discovery provides a potential avenue for earlier identification of children with Leigh syndrome, which could facilitate their inclusion in clinical trials.