Mitochondrial bioenergetics in x-deletion syndrome

The human X chromosome contains over 1400 genes and more than 150 million base pairs, of which approximately 95% have been determined. Duplications, mutations, or deletions in specific regions of the X chromosome are associated with several diseases and rare conditions associated with reproduction, growth, musculature, cognition, and neural development which compromises lifelong healthy learning and living. These conditions include Hunter syndrome, autism, Rett’s syndrome, Duchenne’s muscular dystrophy, Turner’s syndrome, and Fragile X syndrome. Fragile X syndrome is one of the most inherited forms of learning impairment and intellectual disability due to a genetic defect (i.e., fragile X mental retardation protein (FMRP)) on the X chromosome. The Fragile X phenotype also encompasses large de novo deletions in chromosome region Xq27-q28. These regional X-chromosome deletions are linked to a myriad of adverse outcomes.