Mitochondrial myopathy

Mitochondrial myopathy e.smith.bodie Mon, 04/06/2020 - 16:55

Mutations in either nuclear or mitochondrial DNA can cause mitochondrial disease. The inheritance of mitochondrial disease is complex and depends on the location of the mutation.

If the mutation is in the mitochondrial DNA, a mother may pass this on to her children. Men do not pass on a mutation within their mitochondrial DNA. In other words, while both males and females can be affected by mitochondrial disease, only females can pass the mitochondrial DNA mutation on to their children.

If the mutation is in the nuclear DNA, it can be inherited from either parent. (For more information on patterns of inheritance, see our Inheritance factsheet). Some genetic mutations can occur by chance, without any family history. It is important that your specialist tells you about your specific mutation and explains its inheritance.