Parents

NDUFAF8 is a mitochondrial protein that is involved in a very important energy exchange that happens within mitochondria – the tiny batteries of the cell. When NDUFAF8 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 may lead to disease. There are many different types of “mitochondrial disease” and that due to faulty NDUFAF8 is just one those. It is a very rare condition with only a few children described with faulty NDUFAF8, but they all had symptoms that affected their brain and brain development. Faults in the NDUFAF8 protein affect the assembly of complex I, the first step in the energy exchange process. The NDUFAF8 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 clinical (mitochondrial) specialist is recommended for families affected with mitochondrial disease.