Researchers at Northeastern and neighboring colleges say they’ve made a landmark discovery that takes a deeper look at the metabolic and biochemical origins of a debilitating genetic disease known to cause a range of symptoms and health problems.
A new study, published Wednesday, focused on a severe neurodevelopmental disorder referred to as 16p11.2 Deletion Syndrome, a condition often associated with autism, intellectual disability, language impairments, seizures, obesity and movement disorders, among a range of other health problems. People with the condition are missing a region of genetic material in chromosome 16 responsible for coding proteins in the body.
Researchers were able to show that genetic disruptions affecting the way fats and proteins bind to each other inside the cells of those with the condition resulted in abnormalities in nerve cell, or neuron, function, which in turn led to behavioral changes and other symptoms, says Hazel Sive, dean of the College of Science and professor of biology at Northeastern.
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