Researchers have discovered a new enzyme, known as BACE2 destroys beta-amyloid, a toxic protein fragment that affects the brains of patients who have the disease. Reuters

Early childhood brain abnormalities among Wolfram syndrome patients have been noticed by scientists from the Washington University School of Medicine in St Louis.

Wolfram syndrome is very rare condition affecting one in 770,000 children. It causes diabetes, hearing problem, vision loss and kidney problems in childhood. As the child grows older it starts developing cognitive disorders and dementia and more than half die before their 30th birthday.

Earlier, scientists had identified brain abnormalities but they had assumed these changes could not be detected in early childhood. The new findings suggest that some changes in the brain area occur in early childhood.

"This work strongly suggests that brain changes occur very early in the disease," said Tamara Hershey, researcher at the Washington University School of Medicine, in a statement. "The Wolfram gene is important throughout the body - in the heart, retina, pancreas and so on. The pancreas is affected very early in development eventually leading to diabetes, so it stands to reason that other organs like the brain may also be affected at an early age, even before a child experiences any cognitive problems."

Scientists made the finding while studying brain scans of Wolfram patients. During the study, they took brain scans of Wolfram patients aged between 5 to 25 and other young patients who only had type 1 diabetes. When then they compared the brain scans of young children with the Wolfram patients' brain scans, they detected mild brain abnormalities among the young diabetes patients.

"These individuals are intact cognitively, and some of them are very smart, high-functioning kids but we have been able to detect significant differences in the size of certain brain structures, leading us to believe that some of these differences must happen during brain development," Hershey said.

Scientists had identified changes in the brainstem and the cerebellum. They also found that the skulls of these children tended to be smaller than what would have been expected, based on their ages at the time of the study. The researchers also detected differences in the thickness of the brain's cortex, particularly in parts of the cortex related to vision.

"We were able to pinpoint those regions of the brain that are most affected in terms of size - the brainstem and the cerebellum and we also used a type of imaging called diffusion tensor imaging that allowed us to measure the integrity of white matter pathways in the brain. Again, we found evidence that the brainstem and the cerebellum white matter were affected in patients with Wolfram syndrome, compared to those with type 1 diabetes only and healthy controls," Hershey said.

Scientists claim that by conducting more MRI scans and continuing to track patients with Wolfram syndrome over time, they might be able to distinguish changes that occur during brain development from those that occur due to degeneration related to the disorder.