Mutations take their toll on the bones

Genetic factors are responsible for bone loss with mutliple myeloma

Highlight from the e:Med Newsletter

Bone loss is very common with multiple myeloma. Since therapy must be selected according to bone loss occurrence, predicting the course of the disease is important. Why some patients are affected whereas others are not was subject to a systems medicine analysis.

Multiple myeloma is a malignant disease of the antibody-producing cells (plasma cells) in bone marrow. In this disease, identical cells multiply excessively in the bone marrow and these produce large quantities of antibodies and pieces thereof. In many patients, this leads to a breakdown of the bones through decreased activity in those cells that are responsible for bone formation and increased activity in the bone-destroying cells. Up to now, it was not known why the bones were attacked in some patients whereas the disease was more moderate in other patients. As the therapy must be selected depending on this aspect of the disease, there is great interest in clarifying the origins of this bone loss.
e:Med scientists of the CLIOMMICS consortium around Professor Hartmut Goldschmidt, PD Dr. Dirk Hose and Professor Kari Hemminki from Heidelberg, have identified mutations (SNPs) which genome-wide indicate a strong association with bone loss in multiple myeloma. For this purpose, they examined genomic data of patients with multiple myeloma with the clinical course of the disease and the occurrence of bone loss. The germ line mutations they discovered are in a region of chromosome 8 and chromosome 19. These genetic risk factors are connected with genes that are involved in bone loss and they show that a specific molecular signaling pathway (RANK/RANKL/OPG) is involved. The course of the disease in each case is thus dependent on the individual germ line mutations.
The early prediction of the disease course enables a targeted medical intervention and the knowledge of the background to the bone breakdown opens up new therapy options. 

Original publication:

Johnson, D. C., Weinhold, N., Mitchell, J., Chen, B., Stephens, O. W., Försti, A., ... Morgan, G. J. (2016). Genetic factors influencing the risk of multiple myeloma bone disease. Leukemia, 30(4), 883-888.

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