3-methylglutaconic aciduria, type III

Causes

What gene change/mutation causes 3-methylglutaconic aciduria type 3?

3-methylglutaconic aciduria type 3 is caused by genetic changes (mutations) to the OPA3 gene. This gene is found on chromosome 19.

References
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What does the OPA3 gene, the gene that is involved in 3-methylglutaconic aciduria type 3, normally do?

What happens because of genetic changes in OPA3?

Does anything make 3-methylglutaconic aciduria type 3 worse?

What does the OPA3 gene, the gene that is involved in 3-methylglutaconic aciduria type 3, normally do?

The OPA3 gene makes a protein called OPA3. The function of this protein is not quite understood yet. We do know that OPA3 is found inside the mitochondria, which are structures inside the cell that produce energy for the cell to use. The OPA3 protein may therefore help the body with energy production.

References
What happens because of genetic changes in OPA3?

When there are changes (mutations) to the OPA3 gene, not enough OPA3 protein is made or OPA3 protein is made but does not work. Cells that don't have enough OPA3 have changes to their mitochondria (the energy-making factories in the cell). These altered mitochondria are not the right shape. This probably makes it difficult for the mitochondria to make enough energy for the cell, the cell then dies earlier than it is supposed to. This also could decrease the amount of energy available to our body, which might explain the problems with muscles that people with 3-methylglutaconic aciduria type 3 have. It is not known how to OPA3 protein works in the optic nerves or the brain.

References
Does anything make 3-methylglutaconic aciduria type 3 worse?

Other substances that affect the mitochondria (the energy factories of the cell) can make 3-methylglutaconic aciduria type 3 worse. Tobacco, alcohol, and certain medicines are known to prevent the mitochondria form working properly. Therefore, people with 3-methylglutaconic aciduria type 3 should avoid these products.

References

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