Optic nerve histopathology in a case of Wolfram Syndrome: A mitochondrial pattern of axonal loss

Amati-Bonneau, 2008, OPA1 mutations induce mitochondrial DNA instability and optic atrophy “plus” phenotypes, Brain, 131, 338, 10.1093/brain/awm298 Amr, 2007, A homozygous mutation in a novel zinc-finger protein, ERIS, is responsible for Wolfram syndrome 2, Am. J. Hum. Genet., 81, 673, 10.1086/520961 Barrett, 1997, Wolfram (DIDMOAD) syndrome, J. Med. Genet., 34, 838, 10.1136/jmg.34.10.838 Barrett, 1995, DIDMOAD syndrome; further studies and muscle biochemistry, J. Inherit. Metab. Dis., 18, 218, 10.1007/BF00711771 Barrett, 1997, Optic atrophy in Wolfram (DIDMOAD) syndrome, Eye, 11, 882, 10.1038/eye.1997.226 Barrett, 2000, The mitochondrial genome in Wolfram syndrome, J. Med. Genet., 37, 463, 10.1136/jmg.37.6.463 Barrientos, 1996, Autosomal recessive Wolfram syndrome associated with an 8.5-kb mtDNA single deletion, Am. J. Med. Genet., 58, 963 Barrientos, 1996, A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome, J. Clin. Invest., 97, 1570, 10.1172/JCI118581 Bristow, 2002, The distribution of mitochondrial activity in relation to optic nerve structure, Arch. Ophthalmol., 120, 791, 10.1001/archopht.120.6.791 Bu, 1993, Wolfram syndrome: a mitochondrial-mediated disorder?, Lancet, 342, 598, 10.1016/0140-6736(93)91416-J Bundey, 1992, Mitochondrial abnormalities in the DIDMOAD syndrome, J. Inherit. Metab. Dis., 15, 315, 10.1007/BF02435965 Carelli, 2004, Mitochondrial dysfunction as a cause of optic neuropathies, Prog. Retin. Eye Res., 23, 53, 10.1016/j.preteyeres.2003.10.003 Carson, 1977, Simultaneous occurrence of diabetes mellitus, diabetes insipidus, and optic atrophy in a brother and sister, Am. J. Dis. Child., 131, 1382 Chaussenot, 2011, Neurologic features and genotype–phenotype correlation in Wolfram syndrome, Ann. Neurol., 69, 501, 10.1002/ana.22160 Chen, 2009, Cisd2 deficiency drives premature aging and causes mitochondria-mediated defects in mice, Genes Dev., 23, 1183, 10.1101/gad.1779509 Chen, 2009, Cisd2 mediates mitochondrial integrity and life span in mammals, Autophagy, 5, 1043, 10.4161/auto.5.7.9351 Cortopassi, 2006, Mitochondrial disease activates transcripts of the unfolded protein response and cell cycle and inhibits vesicular secretion and oligodendrocyte-specific transcripts, Mitochondrion, 6, 161, 10.1016/j.mito.2006.05.002 Eiberg, 2006, Autosomal dominant optic atrophy associated with hearing impairment and impaired glucose regulation caused by a missense mutation in the WFS1 gene, J. Med. Genet., 43, 435, 10.1136/jmg.2005.034892 Fonseca, 2005, WFS1 is a novel component of the unfolded protein response and maintains homeostasis of the endoplasmic reticulum in pancreatic beta-cells, J. Biol. Chem., 280, 39609, 10.1074/jbc.M507426200 Genís, 1997, Wolfram syndrome: a neuropathological study, Acta Neuropathol., 93, 426, 10.1007/s004010050635 Giorgi, 2009, Structural and functional link between the mitochondrial network and the endoplasmic reticulum, Int. J. Biochem. Cell Biol., 41, 1817, 10.1016/j.biocel.2009.04.010 Hilson, 2009, Wolfram syndrome: a clinicopathologic correlation, Acta Neuropathol., 118, 415, 10.1007/s00401-009-0546-8 Inoue, 1998, A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome), Nat. Genet., 20, 143, 10.1038/2441 Jackson, 1994, Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, Diabetes Care, 17, 728, 10.2337/diacare.17.7.728 Lieber, 2012, Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease, BMC Med. Genet., 13, 3, 10.1186/1471-2350-13-3 Mtanda, 1986, Optic atrophy in Wolfram syndrome, Ophthalmic Paediatr. Genet., 7, 159, 10.3109/13816818609004133 Niemeyer, 1972, Retinal function in an unique syndrome of optic atrophy, juvenile diabetes mellitus, diabetes insipidus, neurosensory hearing loss, autonomic dysfunction, and hyperalanineuria, Invest. Ophthalmol., 11, 617 Osman, 2003, Wolframin expression induces novel ion channel activity in endoplasmic reticulum membranes and increases intracellular calcium, J. Biol. Chem., 278, 52755, 10.1074/jbc.M310331200 Pan, 2012, Mathematically modeling the involvement of axons in Leber's hereditary optic neuropathy, Invest. Ophthalmol. Vis. Sci., 53, 7608, 10.1167/iovs.12-10452 Pilz, 1994, Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD), J. Med. Genet., 31, 328, 10.1136/jmg.31.4.328 Polymeropoulos, 1994, Linkage of the gene for Wolfram syndrome to markers on the short arm of chromosome 4, Nat. Genet., 8, 95, 10.1038/ng0994-95 Rendtorff, 2011, Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment, Am. J. Med. Genet., 155A, 1298, 10.1002/ajmg.a.33970 Rötig, 1993, Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300), J. Clin. Invest., 91, 1095, 10.1172/JCI116267 Rouzier, 2012, The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy “plus” phenotype, Brain, 135, 23, 10.1093/brain/awr323 Sadun, 2000, Leber's hereditary optic neuropathy differentially affects smaller axons in the optic nerve, Trans. Am. Ophthalmol. Soc., 98, 223 Sadun, 2003, Extensive investigation of a large Brazilian pedigree of 11778/haplogroup J Leber hereditary optic neuropathy, Am. J. Ophthalmol., 136, 231, 10.1016/S0002-9394(03)00099-0 Schmidt-Kastner, 2009, Expression of the diabetes risk gene wolframin (WFS1) in the human retina, Exp. Eye Res., 89, 568, 10.1016/j.exer.2009.05.007 Seynaeve, 1994, Four cases of Wolfram syndrome: ophthalmologic findings and complications, Bull. Soc. Belge Ophtalmol., 252, 75 Shannon, 1999, Evidence of widespread axonal pathology in Wolfram syndrome, Acta Neuropathol., 98, 304, 10.1007/s004010051084 Takei, 2006, WFS1 protein modulates the free Ca(2+) concentration in the endoplasmic reticulum, FEBS Lett., 580, 5635, 10.1016/j.febslet.2006.09.007 Tranebjaerg Wolfram, 1938, Diabetes mellitus and simple optic atrophy among siblings: report of four cases, Proc. Staff Meet. Mayo Clin., 13, 715 Yamada, 2006, WFS1-deficiency increases endoplasmic reticulum stress, impairs cell cycle progression and triggers the apoptotic pathway specifically in pancreatic beta-cells, Hum. Mol. Genet., 15, 1600, 10.1093/hmg/ddl081 Yu-Wai-Man, 2011, Mitochondrial optic neuropathies — disease mechanisms and therapeutic strategies, Prog. Retin. Eye Res., 30, 81, 10.1016/j.preteyeres.2010.11.002 Zatyka, 2008, Sodium–potassium ATPase 1 subunit is a molecular partner of Wolframin, an endoplasmic reticulum protein involved in ER stress, Hum. Mol. Genet., 17, 190, 10.1093/hmg/ddm296