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Mutations in POMC gene (or processing) are associated with what symptoms?

User Sumesh
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Final answer:

Mutations in the POMC gene are linked to developmental defects, muscle spasms, and can be fatal. Treatments include diet modifications, vitamin supplements, and gene therapy, but central nervous system damage is often irreversible.

Step-by-step explanation:

Mutations in the POMC gene are associated with several symptoms including developmental defects, muscle spasms, and potentially fatal outcomes. These mutations can lead to inadequate production of the proopiomelanocortin protein, which is involved in creating several important hormones. When these hormones are lacking or do not function properly, it can result in a range of health issues, from growth defects to severe obesity, and adrenal insufficiency. There are treatments available such as diet modification, vitamin supplementation, and gene therapy, but damage to the central nervous system often cannot be reversed. A distinct, but related, condition is Parkinson's Disease, which similarly results from the loss of neurons and is characterized by primary motor symptoms, cognitive decline, and mood disturbances.

User Ridzuan Adris
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