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MYH9 nephropathy. | LitMetric

MYH9 nephropathy.

Kidney Res Clin Pract

Department of Internal Medicine, Soonchunhyang University Cheonan Hospital, Cheonan, Korea.

Published: March 2015

MYH9-related disorder is an autosomal dominant disease caused by a mutation in the MYH9 gene, which encodes nonmuscle myosin heavy chain IIA (NMMHC-IIA). This disease is characterized by giant platelets, thrombocytopenia, granulocyte inclusion bodies, proteinuria, and high-pitch sensorineural deafness. Nephropathy has been observed in 30% of patients with MYH9-related disorder. The characteristic features are early onset proteinuria and rapidly progressing renal disorder. However, the prognosis of MYH9 nephropathy remains unclear. Herein, we describe a 36-year-old woman who presented with proteinuria and was diagnosed with MYH9 nephropathy via renal biopsy and gene analysis. Her proteinuria improved after administration of an angiotensin II receptor blocker, but was aggravated after changing to a calcium channel blocker.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4570591PMC
http://dx.doi.org/10.1016/j.krcp.2014.09.003DOI Listing

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November 2024

Division of Nephrology, Hypertension and Transplant Nephrology, University of California, Irvine, CA, USA.

May-Hegglin anomaly (MHA) is a rare autosomal dominant disease associated with a mutation in the MYH-9 gene. It is characterized by macrothrombocytopenia and neutrophils with abnormal cytoplasmic inclusions. Clinical features of this disease include hearing loss, early cataracts, and renal failure.

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Our previous work established a role for myosin motor proteins MYH9 and MYH10 in trafficking of thick ascending limb (TAL) cargoes uromodulin and Na+-K+-2Cl- cotransporter NKCC2. We have generated a TAL-specific Myh9&10 conditional knockout (Myh9&10 TAL-cKO) mouse model to determine the cell autonomous roles for MYH9&10 in TAL cargo trafficking and to understand the consequence of TAL dysfunction in adult kidney. Myh9&10 TAL-cKO mice develop progressive kidney disease with pathological tubular injury confirmed by histological changes, tubular injury markers, upregulated endoplasmic reticulum (ER) stress/unfolded protein response, and higher blood urea nitrogen and serum creatinine.

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Article Synopsis
  • Primary liver cancer is a major health issue with a poor prognosis and high recurrence rates, making early detection vital yet difficult.
  • Myosin proteins, especially a specific myosin light chain, are key in the development of cancer and may serve as biomarkers for prognosis, particularly in liver hepatocellular carcinoma (LIHC).
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Article Synopsis
  • - Non-muscle myosin heavy chain IIA (MYH9) plays a crucial role in cellular processes like adhesion, migration, and signal transduction, by converting chemical energy into mechanical motion through its interaction with actin and ATP hydrolysis.
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