The osteopetroses reflect alterations of a special cell type, the osteoclast, belonging to the myeloid lineage. We have known this since the 1970s, confirmed by a myriad of reports featuring details that guided subsequent molecular diagnosis and treatment. This review is a tribute to two pioneers in the field: Donald G. Walker PhD (1925–1979) and Sandy C. Marks Jr. PhD (1937–2002), who explored osteopetrosis pathophysiology and treatment. Using spontaneous mutant models of osteopetrosis in mice, rats, and rabbits, they demonstrated the cellular basis of osteopetrosis while also advancing understanding of the hematological origin of osteoclasts. This became the foundation for life-saving treatment by hematopoietic stem cell transplantation. Their prose was uncomplicated, experiments were straightforward, and conclusions were based on facts explaining why their teaching became influential worldwide. I never met Dr. Walker but spoke with Dr. Marks on several occasions. Both inspired my work and, now appreciating how they shaped the osteoclast/osteopetrosis scientist community, we must thank these eminent scientists for being mentors of all of us.
Keywords:
Bone; Osteoclast; Osteopetrosis; Parabiosis; Hematopoietic stem cell transplantation