Fuchs endothelial corneal dystrophy: A neurodegenerative disorder?

JAMA Ophthalmology

Volumn 132, Issue 4, 2014, Pages 377-378

  Zhu, Angela Y ^a   Eberhart, Charles G ^b   Jun, Albert S ^b  

^a CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REACTIVE OXYGEN METABOLITE;

CELL INCLUSION; CORNEA DYSTROPHY; CORNEA ENDOTHELIUM; CORNEA STROMA; DEGENERATIVE DISEASE; DNA REPLICATION; DNA SEQUENCE; EMBRYO DEVELOPMENT; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; FRAGILE X SYNDROME; FUCHS ENDOTHELIAL CORNEAL DYSTROPHY; GENE EXPRESSION; HUMAN; HUNTINGTON CHOREA; MESENCHYME CELL; MUSCULAR DYSTROPHY; NEURAL CREST CELL; NEUROMUSCULAR SYSTEM; OXIDATIVE STRESS; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN FUNCTION; REVIEW; TRINUCLEOTIDE REPEAT; UNFOLDED PROTEIN RESPONSE; UNSTABLE DNA SEQUENCE;

BASIC HELIX-LOOP-HELIX LEUCINE ZIPPER TRANSCRIPTION FACTORS; CORNEAL ENDOTHELIAL CELL LOSS; DESCEMET MEMBRANE; ENDOPLASMIC RETICULUM; FUCHS' ENDOTHELIAL DYSTROPHY; HEREDODEGENERATIVE DISORDERS, NERVOUS SYSTEM; HUMANS; OXIDATIVE STRESS; TRANSCRIPTION FACTORS; TRINUCLEOTIDE REPEATS;

EID: 84898655322     PISSN: 21686165     EISSN: None     Source Type: Journal    
DOI: 10.1001/jamaophthalmol.2013.7993     Document Type: Review

References (14)

1. Elhalis H, Azizi B, Jurkunas UV. Fuchs endothelial corneal dystrophy. Ocul Surf. 2010; 8 (4): 173-184.
2. Amano S, Yamagami S, Mimura T, Uchida S, Yokoo S. Corneal stromal and endothelial cell precursors. Cornea. 2006; 25 (10) (suppl 1): S73-S77.
3. Hatou S, Yoshida S, Higa K, et al. Functional corneal endothelium derived from corneal stroma stem cells of neural crest origin by retinoic acid and Wnt/β-catenin signaling. Stem Cells Dev. 2013; 22 (5): 828-839.
4. Wieben ED, Aleff RA, Tosakulwong N, et al. A common trinucleotide repeat expansion within the transcription factor 4 (TCF4, E2-2) gene predicts: Fuchs corneal dystrophy. PLoS One. 2012; 7 (11): e49083.
5. Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Annu Rev Neurosci. 2007; 30: 575-621.
6. Abe T, Yamada N, Abe K, Tamai M. Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene. Br J Ophthalmol. 1999; 83 (1): 124-125.
7. Abe T, Abe K, Aoki M, Itoyama Y, Tamai M. Ocular changes in patients with spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. Arch Ophthalmol. 1997; 115 (2): 231-236.
8. Matus S, Glimcher LH, Hetz C. Protein folding stress in neurodegenerative diseases: a glimpse into the ER. Curr Opin Cell Biol. 2011; 23 (2): 239-252.
9. Federico A, Cardaioli E, Da Pozzo P, Formichi P, Gallus GN, Radi E. Mitochondria, oxidative stress and neurodegeneration. J Neurol Sci. 2012; 322 (1-2): 254-262.
10. Jurkunas UV, Bitar MS, Funaki T, Azizi B. Evidence of oxidative stress in the pathogenesis of Fuchs endothelial corneal dystrophy. Am J Pathol. 2010; 177 (5): 2278-2289.
11. Engler C, Kelliher C, Spitze AR, Speck CL, Eberhart CG, Jun AS. Unfolded protein response in Fuchs endothelial corneal dystrophy: a unifying pathogenic pathway? Am J Ophthalmol. 2010; 149 (2): 194-202.e2.
12. Bhandary B, Marahatta A, Kim HR, Chae HJ. An involvement of oxidative stress in endoplasmic reticulum stress and its associated diseases. Int J Mol Sci. 2012; 14 (1): 434-456.
13. Marangi G, Ricciardi S, Orteschi D, et al. The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. Am J Med Genet A. 2011; 155A (7): 1536-1545.
14. Kim EC, Meng H, Jun AS. Lithium treatment increases endothelial cell survival and autophagy in a mouse model of Fuchs endothelial corneal dystrophy [published online June 12, 2013]. Br J Ophthalmol. 2013; 97 (8): 1068-1073. doi: 10.1136/bjophthalmol-2012-302881