The Younger Sibling of a Friend of Yours Has Been

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The Answer is Leukoencephalopathy with vanishing white matter (VWM) is a rare genetic disorder that affects the brain and spinal cord. It is caused by mutations in any one of five genes: EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes provide instructions for making proteins that are involved in the formation and function of myelin, which is the fatty covering that insulates nerve fibers in the brain.

The mutations in these genes disrupt the production of myelin, leading to its gradual deterioration. As a result, the white matter of the brain, which is primarily composed of myelin, begins to vanish. This loss of myelin disrupts the transmission of nerve impulses, leading to neurological problems such as loss of motor skills, cognitive decline, and seizures.

VWM is inherited in an autosomal recessive pattern, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the disorder. Carriers of a single mutated gene are typically unaffected, but they can pass the mutation on to their children.

Unfortunately, there is currently no cure for VWM, and treatment focuses on managing symptoms and providing supportive care. Genetic counseling and testing can help identify carriers of the mutated genes and provide information for family planning. Research into potential therapies for VWM is ongoing, but much more needs to be done to fully understand and effectively treat this devastating disease.

The Younger Sibling of a Friend of Yours Has Been

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The Younger Sibling of a Friend of Yours Has Been

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Correct Answer:
Answered by ExamLex AI