Loss of the Fanconi anemia–associated protein NIPA causes bone marrow failure (original) (raw)

Inherited bone marrow failure syndromes (IBMFSs) present significant diagnostic challenges. Fanconi anemia (FA), a type of IBMFS, is linked with mutations that affect DNA damage repair. Recent findings reveal that the loss of the NIPA protein, associated with FA, disrupts interactions with FANCD2, further impairing DNA repair and contributing to hematopoietic stem cell deficiencies. Experimental evidence indicates that restoring FANCD2 can ameliorate the defects observed in NIPA-deficient cells, highlighting potential therapeutic avenues for patients suffering from related syndromes.