Why is an energy metabolic defect the common outcome in BMFS

摘要: Inherited bone marrow failure syndromes (BMFS) are rare, distressing, inherited blood disorders of children. Although the genetic origin these pathologies involves genes with different functions, all associated progressive haematopoietic impairment and an excessive risk malignancies. Defects in energy metabolism induce oxidative stress, impaired production unbalanced ratio between ATP AMP. This assumes important role self-renewal differentiation stem cells (HSC) can play failure. energetic/respiratory metabolism, particular FA SDS cells, have been described recently seem to be a pertinent argument discussion defect BMFS, as alternative hypotheses already established on this subject, which may shed new light evolution diseases.