SURF1 gene: MedlinePlus Genetics

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• More than 80 different SURF1 gene mutations have been identified in people with Leigh syndrome

• Approximately 10 to 15 percent of people with Leigh syndrome have a mutation in the SURF1 gene

• SURF1 gene mutations result in an abnormally short protein. Other mutations replace a single protein building block in the SURF1 protein. The mutated proteins are broken down in the cell, which results in the absence of SURF1 protein. Lack of SURF1 protein hinders the proper formation of the COX complex. As a result, COX enzyme activity is severely reduced, which leads to impaired oxidative phosphorylation.

• exact mechanism is unclear, researchers believe that impaired oxidative phosphorylation can lead to cell death because of decreased energy available in the cell.

• Cell death in the brain likely causes the characteristic changes in the brain seen in Leigh syndrome, which contribute to the signs and symptoms of the condition.