title: Why is an energy metabolic defect the common outcome in BMFS?
abstract: Inherited bone marrow failure syndromes (BMFS) are rare, distressing, inherited blood disorders of children. Although the genetic origin of these pathologies involves genes with different functions, all are associated with progressive haematopoietic impairment and an excessive risk of malignancies. Defects in energy metabolism induce oxidative stress, impaired energy production and an unbalanced ratio between ATP and AMP. This assumes an important role in self-renewal and differentiation in haematopoietic stem cells (HSC) and can play an important role in bone marrow failure. Defects in energetic/respiratory metabolism, in particular in FA and SDS cells, have been described recently and seem to be a pertinent argument in the discussion of the haematopoietic defect in BMFS, as an alternative to the hypotheses already established on this subject, which may shed new light on the evolution of these diseases.
authors: a S. C. Mutagenesis, IRCCS AOU San Martino - IST (Istituto Nazionale per la Ricerca sul Cancro), CBA Torre A2 , Genova , Italy.
authors: Paolo
authors: P
authors: Degan
authors: b DIFAR-Biochemistry Lab., Department of Pharmacy, University of Genova , Genova , Italy.
authors: Silvia
authors: S
authors: Ravera
authors: c Hematology Unit, Istituto Giannina Gaslini , Genova , Italy.
authors: Enrico
authors: E
authors: Cappelli
mesh_terms: D000741:Anemia, Aplastic / Q000378:metabolism*; D001855:Bone Marrow Diseases / Q000378:metabolism*; D000080983:Bone Marrow Failure Disorders; D004249:DNA Damage; D004734:Energy Metabolism; D006412:Hematopoietic Stem Cells / Q000378:metabolism; D006457:Hemoglobinuria, Paroxysmal / Q000378:metabolism*; D006801:Humans; D008954:Models, Biological; D055153:Stem Cell Niche
keywords: Bone marrow failures; cancer prone diseases; energy metabolism; hematopoietic stem cells; oxidative stress