Parents

NDUFA6 is a mitochondrial protein, involved in a very important energy exchange that happens within mitochondria – the tiny batteries of the cell. When NDUFA6 is faulty, this energy exchange doesn’t work properly and the cell’s energy supply is interrupted. This causes major problems for how the cell works and causes disease. There are many different types of “mitochondrial disease” and that due to faulty NDUFA6 is just one those. Individuals affected by faulty NDUFA6 genes are usually children, but their symptoms can vary widely. The one thing that they share in common is that a collection of proteins called complex I isn’t formed correctly; complex I is really important and the first step in the energy exchange process. The NDUAF6 gene faults are most often inherited, one from the mum and one from the dad. The parents have a 1 in 4 (25%) chance of having another affected child, for each pregnancy. Genetic counselling or referral to a metabolic (mitochondrial) specialist is recommended for families affected with mitochondrial disease.