Molecular Biology: Open Access

Garcia-Figueroa. J

Publications

• Research Article
  Background Strain and Natural Selection Improves Survival of HIBM Murine Model
  Author(s): Valles-Ayoub. Y, Khokher. Z, Sandoval. L, Haghighatgoo. A, No. D, Saechao. C, Garcia-Figueroa. J, Carbajo. R, Darvish. B and Darvish. DValles-Ayoub. Y, Khokher. Z, Sandoval. L, Haghighatgoo. A, No. D, Saechao. C, Garcia-Figueroa. J, Carbajo. R, Darvish. B and Darvish. D
  
  GNE myopathy, or Hereditary Inclusion Body Myopathy (HIBM), is an autosomal recessive adult-onset muscle wasting disorder caused by hypomorphic GNE (UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase), 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, show 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 showed attenuated glomerular disease and survived longer (mean survival 23.48 ± 13.99 weeks, n=73). Within the first 2 generations, 26% of the homozygous mice survived past the age of 40 weeks, and within the subsequent 3 generations the freq.. Read More»
  DOI: 10.4172/2168-9547.1000109

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