GFM1

At least 18 mutations in the GFM1 gene have been found to cause combined oxidative phosphorylation deficiency 1. This condition causes severe neurologic and liver dysfunction. Affected individuals usually do not survive past early childhood. Most of the GFM1 gene mutations change single amino acids in the mitochondrial translation elongation factor G1 enzyme. Such alterations reduce or eliminate the enzyme's function. As a result, fewer mitochondrial proteins involved in oxidative phosphorylation are produced. Organs that have high energy demands, such as the brain and liver, are particularly affected by the resulting impairment of oxidative phosphorylation. A shortage of energy in these tissues leads to cell death, causing the neurological and liver problems in people with combined oxidative phosphorylation deficiency 1. It is thought that other tissues that require a lot of energy, such as the heart and other muscles, are not affected in this condition because they have additional enzymes that can perform the process of mitochondrial protein production.

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