Main Category: Neurology / Neuroscience
Also Included In: Pediatrics / Children’s Health; Stem Cell Research
Article Date: 09 Jul 2013 – 0:00 PDT
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How Mutated Neural Stem Cells Lead To CHARGE Syndrome
In addition, CHD7 has been identified as a high-risk gene in human autism, and many CHARGE patients are autistic. It seems that the gene is important in the regulation of many more physiological processes in the body. By analogy to the neural stem cell study, the DKFZ researchers will now use their advanced mouse model to investigate CHD7′s role in other types of cells.
CHARGE syndrome* is a severe developmental disorder affecting multiple organs. It affects 1 in 8500 newborns worldwide. The majority of patients carry a mutation in a gene called CHD7. How this single mutation leads to the broad spectrum of characteristic CHARGE symptoms has been a mystery.
The work led to an exciting finding: by switching off CHD7 in either fetal or adult neural stem cells, the scientists observed that the mutant cells behaved in a common way: They could not efficiently differentiate into mature neurons, which are the basic functional unit in the brains of humans and other animals. Mature neurons normally have a very complex morphology, allowing them to create networks in the brain which are important for processing information. Neurons with the mutant form of CHD7, however, seem to be incapable of forming networks.
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Dr. Haikun Liu’s lab at the German Cancer Research Center (Deutsches Krebsforschungszentrum, DKFZ) is interested in the regulation of adult neural stem cells. The scientists have a particular focus on the role adult neural stem cells play in human diseases, including mental retardation and brain tumors. CHARGE patients suffer from mental retardation and learning disabilities, strongly suggesting that a central nervous defect underlies the disease.
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Helmholtz Association of German Research Centres. “How Mutated Neural Stem Cells Lead To CHARGE Syndrome.” Medical News Today. MediLexicon, Intl., 9 Jul. 2013. Web.
9 Jul. 2013. <http://www.medicalnewstoday.com/releases/262970.php>
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