[Expression and function of non-muscle myosin-IIA in Fechtner syndrome].
The study was purposed to investigate the expression and function of non-muscle myosin heavy chain-IIA (NMMHC-IIA) in Fechtner syndrome in order to explore the pathologic changes of kindy disease and the mechanism of granulocyte inclusion body formation. NMMHC-IIA levels in granulocytes were analyzed by Western-blot, the expressions of NMMHC-IIA, IIB in HEK-293 cells were detected by RT-PCR and were analyzed by co-immunoprecipitation. The results indicated that the IIA/beta-actin ratio for Fechtner syndrome granulocytes was (0.35 +/- 0.12), and obviously decreased as compared with that of normal control (0.87 +/- 0.18) (p < 0.01). The IIA and IIB expressed higher in HEK-293 cells. The interaction of IIA and IIB was confirmed by co-immunoprecipitation in HEK-293 cells. It is concluded that dominant-negative effect of NMMHC-IIA is involved in the formation of inclusion bodies. IIA and IIB show obvious interaction, IIB partly compensates the IIA defect derived from MYH9 mutations, and may delay or prevent the development of clinically relevant abnormalities.
Yang
Hai-Yan
HY
Ministry of Health, Jiangsu Institute of Hematology, The First Hospital of Suzhou University, Suzhou 215006, Jiagnsu Province, China.
Wang
Zhao-Yue
ZY
Cao
Li-Juan
LJ
Zhao
Xiao-Juan
XJ
Bai
Xia
X
Ruan
Chang-Geng
CG
D001791:Blood Platelet Disorders / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D002460:Cell Line; D006098:Granulocytes / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007668:Kidney / Q000166:cytology / Q000196:embryology / Q000378:metabolism; D009154:Mutation; D024507:Nonmuscle Myosin Type IIA / Q000235:genetics / Q000378:metabolism* / Q000502:physiology*; D024501:Nonmuscle Myosin Type IIB / Q000235:genetics / Q000378:metabolism / Q000502:physiology; D013577:Syndrome; D013921:Thrombocytopenia / Q000235:genetics / Q000378:metabolism* / Q000473:pathology
D024507:Nonmuscle Myosin Type IIA; D024501:Nonmuscle Myosin Type IIB