This kind of mitochondrial alteration has been described recently in a mouse model for the human disease chorea-acanthocytosis (ChAc), which is a mutation in the Vacuolar Protein Sorting 13 Homolog A (VPS13A) gene encoding chorein, and which is associated with reduced sperm motility and with infertility90. Here, VPS13A is linked to Choreoacanthocytosis.