A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

Seyed Yahya Anvar; Yotam Raz; Nisha Verwey; Barbara van der Sluijs; Andrea Venema; Jelle J Goeman; John Vissing; Silvère M van der Maarel; Peter A.C. ‘t Hoen; Baziel G.M. van Engelen; Vered Raz

doi:doi:10.18632/aging.100567

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Research Paper Volume 5, Issue 6 pp 412—426

A decline in PABPN1 induces progressive muscle weakness in Oculopharyngeal muscle dystrophy and in muscle aging

Figure 1. Similar expression profiles in OPMD and elderly muscles.

(A) Venn diagram shows the number of affected genes (p ≤0.01) in OPMD, elderly overlapping genes. The percentage of similar gene direction and the direction (up or down) are listed. For each group the mean age ± standard deviation are denoted. (B) Cumulative distribution function (CDF) plots show the distribution of normalized literature association-weights of commonly deregulated genes between OPMD and elderly with the concepts: Aging, Muscle contraction, Oxidative phospho-rylation, insulin signalling, TGFβsignalling, and the ubiquitin-proteasome system (UPS). Arrowheads indicate the maximum association weights. The further the curve shifts to the right, the higher the associations of the affected genes with the indicated concepts are. (C) Bar-chart shows fold-change of selected known age-regulated genes in elderly and in OPMD. P-values are indicated: * P≤0.01, ** P<0.005, *** P<0.0005.