PMC3338476_01
Frequency of abnormal liver tests depending on the location of the MYH9 gene mutation.. Mutations involving the motor domain and tale domain regions of the gene are indicated. No significant differences in the distribution of liver test alteration between the two locations of the gene defect were evident.
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There was no evident association between the elevation of liver enzymes (prevalence or degree of elevation) and the specific MYH9 mutation, the residue of the NMMHC-IIA protein affected by mutation, or the involved domain (MD or TD, Figure 1).
Distribution of liver test levels in the four populations studied.. Data for ALT, AST and GGT distributions are shown.
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PMC3338476_02
Immunohistochemistry for NMMHC-IIA in the liver biopsy from one patient with MYH9-RD.. Liver biopsy from a 10-years-old patient with MYH9-RD caused by the p.T1155A mutation of MYH9 with persistently elevated AST, ALT and GGT. (A, B): Immunohistochemistry for NMMHC-IIA showed a signal (brown, horseradish peroxidase staining) concentrated close to the hepatocytes' plasma membrane. The distribution of NMMHC-IIA was not significantly different from that from a healthy control (C, D). Specimens were counterstained with Meyer's haematoxylin. Scale bars correspond to 10 microm.
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pone-0035986-g003
No significant differences in NMMHC-IIA distribution were detectable with respect to the liver biopsy used as a control ( Fig. 3 ).