Featured Research

Scientist finds a way to help families cope with a rare neurological disorder

July 13, 2017

Giuseppe Valacchi, PhD, a scientist with the N.C. State Plants for Human Health Institute, has found that dietary interventions alleviate many symptoms of a rare genetic disorder called Rett Syndrome.

Giuseppe Valacchi, PhD

Giuseppe Valacchi, PhD, arrived in Kannapolis, North Carolina from Ferrara, Italy in the summer of 2016. As the newest Associate Professor with the N.C. State Plants for Human Health Institute (PHHI) at the NC Research Campus (NCRC), he was far away from home but a step closer to achieving his goal of helping families find ways to cope with a rare neurological disorder called Rett Syndrome.

Rett Syndrome (RS) is a neurodevelopmental disorder that affects the nervous system and other vital organs. One in ten thousand infants, almost all females, will be born with RS, which is caused by mutations in a specific gene called Mecp2.

Valacchi describes Mecp2 as a gene that does “everything” since it is able to “turn on” or “turn off” the gene expression of thousands of vital proteins. A mutation in Mecp2 stunts the growth of neurons, which are in the brain and spinal cord, and nerve cells, which run throughout the body, affecting the ability of cell-to-cell communication in the nervous system and other parts of the body.

Valacchi explains that RS symptoms are not visible until a child reaches six to eighteen months of age, after she has already started to walk, talk, and learn other skills. When the effects of the mutation appear, there is a visible regression, making RS a particularly devastating disease.

Valacchi began researching RS in 2009 when a colleague pointed out a connection with oxidative stress, a subject he knew well from his previous work at the University of California, Berkeley and, later, the University of Siena in Italy. Oxidative stress is an imbalance in the body between compounds called free radicals, which damage cells and compromise their ability to respond to stress via the so-called “antioxidants defense.”

Later in 2009, Valacchi observed increased oxidative stress levels in the plasma of RS patients. This study was the first to associate oxidative stress with RS patients in the last 40 years. In the 1980s, the first researcher to notice abnormally low levels of antioxidants in the blood of RS patients was Dr. Andreas Rett, who first discovered the disease in 1966.

Valacchi and his team also found that during the four phases of progressive neurodegradation that occur once symptoms begin, there is a progressive increase of oxidative stress markers. “The worse the clinical picture of a child, the higher the oxidative stress level,” Valacchi explained.

With oxidative stress strongly tied to the neurological symptoms characteristic of RS, Valacchi looked to naturally occurring compounds with antioxidant properties. In a study with omega-3 fatty acids, Valacchi saw oxidative stress decrease and symptoms improve in RS patients. Valacchi found that the children in the study that consumed the omega-3 fatty acids were easier to communicate and interact with, calmer and happier.

“Dietary interventions cannot cure Rett Syndrome,” Valacchi clarified. “But they can make a huge difference to families dealing with this overwhelming disease.”

Valacchi and his team – both in Ferrara, Italy and in North Carolina – have published many studies on RS and oxidative stress, more than almost any other group of researchers. He anticipates broadening his research base through collaborations with NCRC colleagues who also study the effect of antioxidants on human health.

The most meaningful aspect of his work, Valacchi admits, is time spent with RS children and their families.

“I feel like I’m trying to do something good,” he said about the impact of his work. “If I could help these families even just a little bit, that would be great.”

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