AK2 deficiency affects human hematopoiesis

ABSTRACT: Reticular dysgenesis (RD) is a human Severe Combined Immunodeficiency mainly characterized by a profound neutropenia and lymphopenia. This pathology is due to mutations in the adenylate kinase 2 (AK2) gene, resulting in the loss of AK2 protein expression. AK2 is a mitochondrial protein, which regulates the homeostasis of cellular adenine nucleotides by converting ADP into ATP and AMP. Using a RNA interference strategy, we dissected the role of AK2 during the commitment of hematopoietic progenitors towards the lymphoid or myeloid lineage. Our results demonstrated that AK2 knock-down progenitors have reduced proliferative and survival capacity and differentiation toward the lymphoid or granulocytic lineage is abrogated. In this report, we also highlighted that AK2 signaling pathway is essent

ORGANISM(S): Homo sapiens

SUBMITTER: Nicolas Cagnard 

PROVIDER: E-MTAB-2680 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress