Parents

APOPT1/COA8-related encephalopathy is a genetic disease and mutations are inherited from both the father and the mother. This gene encodes for a protein important for the function of mitochondria, the powerhouses of the cell. When both (the maternal and paternal) copies of the gene are affected, it causes a neurological disease manifesting during childhood as episodes of loss of ability to talk and walk, together with lowered consciousness and lack of movement coordination and the inability to use the arms, legs and body.