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A New Rare Neurodegenerative Brain Disease Is Discovered And Defined Also

Scientists have succeeded to classify and describe an unusual new brain disease, which is described by reduced brain growing in affected children and can ultimately lead to paralysis of the legs. The earlier unidentified neurodegenerative state was identified in two different families living more than 1,600 km (1,000 miles) away from each other and confirms a strong genetic element as many siblings in both families are affected.


After five years of studying the two families and the 14 children who were affected by the disease, the researchers were able to identify exactly which mutated gene was guilty for the neurological illness, narrowing it down to GPT2. The disease affects brain growth in children, who show intelligent disability and degeneration in motor abilities. For instance, until the age of three, the children will normally be able to walk habitually, but then they will gradually lose function of their legs as a disorder known as spasticparaplegia develops. While the gene GPT2 is present in the nucleus of the cell, the enzyme it codes for in fact gets to work in the mitochondria, the center of the cell. The end result is that the enzyme cannot function correctly; leaving the growing brains of young children without the biosynthetic skills they need to grow accurately. It may also lead to compact levels of other substances compulsory in preventing neurological degeneration.

The scientists were able to pinpoint two specific mutations inside the GPT2 gene, with their discoveries backed up by other research teams joining mutations in the similar gene to a neurological disease found in other families. To found how the transformed GTP2 gives growth to the disease, the scientists then establish both human cells and mouse models where they presented the mutations and found that growing mice revealed reduced neural and brain growth. When they observed in closer detail, they found that the neurons in affected mice had less synapsis, which is the networks between brain cells that structure brain circuits.

Dr. Eric Morrow describes co-author of the paper describing the as yet anonymous disease in the Proceedings of the National Academy of Sciences, in a report, "This is a clear, new neurogenetic disease due to mutations in GPT2. Furthermore, to the importance this has to the diagnosis of developmental disorders, and possibly therapeutics, it is also a window into how the brain grows and how the brain functions."

Not just that, but the enzyme GPT2 is also connected to the amino acid glutamate, a neuro-transmitter that controls how brain cells interact. Dr. Eric Morrow says, "To find a glutamate metabolizing enzyme that is related to a brain disease is an opportunity to study how that neuro-transmitter might work or be modulated."

It is hoped that if the disease is detected in children early enough, there could be some way to stop its progression. Scientists are now trying to discover as much as they can about the disease and how it can be stopped.

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