The NUBPL gene causes a genetic disorder called Complex I deficiency, a type of mitochondrial disease. Production of energy in our body’s cells takes place in a cellular compartment called the mitochondrion. There are numerous mitochondria in most cell types and this is where the electron transport chain, which is part of the process that produces energy, resides. Complex I is one of four complexes (labeled I to IV) of the electron transport chain and each is formed from multiple different proteins that are encoded by our genes. Therefore, besides the NUBPL gene, Complex I deficiency can be caused by mutations in at least 38 other genes. These diseases are recessive, meaning that both gene copies in the affected child need to be impacted by a damaging mutation. The parents of an affected child are carriers of one of the two mutations that the child inherits (one from the mother and one from the father). Carriers (the parents) with only one mutated copy of the NUBPL gene do not have this childhood disease. Parents with an affected child have a 1 in 4 chance of having another affected child and should receive genetic counseling if they plan to have more children.
Additional information can be found at:
NUBPL Foundation
https://www.nubpl.org/
Spooner Girls Foundation
http://www.spoonergirls.org/
NUBPL