Myelin sheaths are produced by brain cells called oligodendrocytes. This demyelination, which occurs in the brain, but also in the spinal cord, is partly responsible, in function of its location, for motor, sensory, balance and visual disorders… Most patients with CHARGE syndrome show alterations of the central nervous system, with white matter defects and the formation of the myelin sheath, substance surrounding and protecting the axons allowing the rapid transmission of information in the Nervous System. This new potential therapeutic target could lead to the development of new treatments for people suffering from diseases due to myelination defects.ĬHARGE syndrome is manifested by many congenital malformations: malformations of the eye, heart, nose, growth and psychomotor development delay, genito-urinary problems, ear deficiencies. Their discoveries indicate that CHD7 gene is essential for oligodendrocyte maturation and myelin formation. Dr Parras’ team at the Institut du Cerveau – ICM has shown that this anomaly could be related to a deficient myelination process. ![]() In infected children, neurological disorders increase with age. ![]() This syndrome is recognised as being the major cause of congenital deafness and blindness. ![]() Charge syndrome is a rare genetic disorder (1 out of 10 000 births) caused by a mutation in a copy of CHD7 gene, resulting in many defects.
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