Molecular Biology: Open Access

Zeshan Khokher

Publications

• Research Article
  Mixed Inbred FVB;B6 Background Strain Attenuates Kidney Disease and Improves Survival of Gne^M712T/M712T Mice
  Author(s): Yadira Valles-Ayoub, Arman Haghighatgoo, Chai Saechao, Zeshan Khokher, Christopher Creencia, Oscar Scremin, Gregory Lawson DVM, Babak Darvish and Daniel DarvishYadira Valles-Ayoub, Arman Haghighatgoo, Chai Saechao, Zeshan Khokher, Christopher Creencia, Oscar Scremin, Gregory Lawson DVM, Babak Darvish and Daniel Darvish
  
  Recessive form of Hereditary Inclusion Body Myopathy (HIBM, IBM2, MIM:600737) is an adult onset muscle wasting disorders caused by hypomorphic GNE, the rate-limiting enzyme of sialic acid (Sia) biosynthesis. Unlike human patients, mice bearing the GneM712T/M712T genotype in C57BL/6 background strain suffer severe glomerular hematuria, incomplete podocyte development, and do not survive beyond the first few days of life. We crossed heterozygous mice (GneM712T/+) of B6 strain with FVB strain mice. In mixed inbred FVB;B6 background, the homozygous mice show attenuated glomerular disease and survive longer (mean survival 22±13 weeks, n=26). Paradoxically, the homozygous mice showed increased total Sia levels in serum (2x control), and Neu5Ac:Neu5Gc ratios are slightly shifted towards Neu5Ac in serum and towards Neu5Gc in muscle tissue. Increase in serum Sia leve.. Read More»
  DOI: 10.4172/2168-9547.1000104

  Abstract PDF