Kim Il Yong, Yi Sun Shin, Shin Jae Hoon, Kim Yo Na, Ko Chang-Yong, Kim Han Sung, Lee Soo Young, Bae Yun Soo, Seong Je Kyung
Korea Mouse Phenotyping Center (KMPC), Seoul, 08826, Republic of Korea.
Department of Biomedical Laboratory Science, College of Medical Sciences, Soonchunhyang University, Asan, 31538, Republic of Korea.
Anat Sci Int. 2020 Jun;95(3):323-333. doi: 10.1007/s12565-020-00525-3. Epub 2020 Feb 17.
AHNAK has been reported to be involved in actin cytoskeleton rearrangement of some cell types, calcium homeostasis, and activation of T cells. Although the functional role of AHNAK in muscle cells, epidermis, and brain has been determined, its association with apparent clinical impairment has not been found yet. During phenotypic analysis of AHNAK knock out (KO) mice for many years, we observed that AHNAK KO mice showed very slow growth. Snouts of these animals were very short, and their bones were easily broken compared to normal mice. It is known that AHNAK is closely related to calcium. However, intensive morphological studies on phenotypes of bone have yet been reported for AHNAK. Thus, the objective of the present study was to analyze the morphology of skull, mandibular, limbs, and caudal bones of AHNAK KO mice intensively using micro-CT with many factors for various ages of these mice (6 weeks, 18 weeks, and 40 weeks). As a result, it was found that the facial region of AHNAK KO mouse showed a large difference in mandible than skull. Their both femur and tibia were shortened, and bone strength was also significantly decreased compared to normal mice. Particularly, the tail bone of AHNAK KO mice exhibited morphological abnormality by age. Taken together, these results suggest that AHNAK plays an important role in bone shape, development, and metabolism. Although our results demonstrated that AHNAK has a distinct role in bone, further investigations are needed to determine various features of bone metabolism related to AHNAK in the future.
据报道，AHNAK参与了某些细胞类型的肌动蛋白细胞骨架重排、钙稳态以及T细胞的激活。尽管已经确定了AHNAK在肌肉细胞、表皮和大脑中的功能作用，但尚未发现其与明显临床损伤之间的关联。在对AHNAK基因敲除（KO）小鼠进行多年的表型分析过程中，我们观察到AHNAK KO小鼠生长非常缓慢。这些动物的口鼻部很短，与正常小鼠相比，它们的骨头很容易折断。已知AHNAK与钙密切相关。然而，尚未有关于AHNAK基因敲除小鼠骨骼表型的深入形态学研究报道。因此，本研究的目的是使用微型计算机断层扫描（micro-CT）对不同年龄（6周、18周和40周）的AHNAK KO小鼠的头骨、下颌骨、四肢和尾骨形态进行深入分析。结果发现，AHNAK KO小鼠的面部区域在下颌骨方面与头骨存在很大差异。它们的股骨和胫骨都缩短了，与正常小鼠相比，骨强度也显著降低。特别是，AHNAK KO小鼠的尾骨随年龄出现形态异常。综上所述，这些结果表明AHNAK在骨骼形状、发育和代谢中发挥着重要作用。尽管我们的结果表明AHNAK在骨骼中具有独特作用，但未来还需要进一步研究以确定与AHNAK相关的骨代谢的各种特征。
