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. Author manuscript; available in PMC: 2022 Oct 1.
Published in final edited form as: Bone. 2021 May 26;151:116023. doi: 10.1016/j.bone.2021.116023

Table 2.

Disease impacts of the nuclear-mechanotransductive pathways.

Disease Gene Outcome References
HGPS, APSs, MADA LMNA Accumulation of progerin disrupts nuclear envelope integrity [168,180,198,199]
MADB and RD ZMPSTE24 Accumulation of prelamin A which may lead to the abnormal skeletal phenotypes [204–206]
NGPS BANF1 BAF protein which plays a role in nuclear assembly, chromatin organization. Decreased bone density and osteolysis, but no cardiovascular effects [207]
Greenberg dysplasia LBR Interferes with cholesterol biosynthesis suggesting a primarily metabolic disease mechanism [208–211]
Sclerosing bone dysplasias LEMD3 Involved in canonical TGF-β signaling which is crucial for in utero skeletal development and post-natal bone maintenance by promoting bone progenitor enrichment. Loss of lamin A/C in vivo causes an increase in MAN1 expression while decreasing MAN1/Runx2 colocalization, thus affecting osteogenesis of MSCs. [212,213,180]