NDUFA6 is a mitochondrial protein, involved in energy exchange for the cell. The information to make the NDUFA6 protein is contained in specific DNA. Variations or “spelling mistakes” in the DNA code for NDUFA6 will mean that it doesn’t work efficiently and energy exchange will be impaired. The spelling mistakes that occur in NDUFA6 are often very severe, like taking a letter away which bunches all the other “letters” down. That doesn’t sound too bad, but if the word was spelt CAT-CAT-CAT-CAT-CAT – and then you take away the first C, you end up with ATC-ATC-ATC-ATC-AT which makes a huge difference. Not all the spelling mistakes remove a letter, one fault that has been found before changes a very important letter, for example if you change the first C of “CAT” to a T, you end up with TAT. These faults in the NDUFA6 gene cause the protein to be recycled instead of forming part of complex I. If you think of complex I like a recipe, you need all the different bits to go in to make the cake. If your recipe says to add flour and you don’t, your cake won’t rise and it’s a similar idea with complex I; you need all the different subunits and there are over 40 of them! NDUFA6 is just one part of the jigsaw, but they are all very important.
NDUFA6