Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome

Journal of Physiology

Volumn 589, Issue 7, 2011, Pages 1681-1689

  Thompson, Dorothy A ^a   Feather, Sally ^b   Stanescu, Horia C ^a   Freudenthal, Bernard ^a   Zdebik, Anselm A ^a   Warth, Richard ^c   Ognjanovic, Milos ^d   Hulton, Sally A ^e   Wassmer, Evangeline ^e   Van't Hoff, William ^a   Russell Eggitt, Isabelle ^a   Dobbie, Angus ^b   Sheridan, Eamonn ^b   Kleta, Robert ^a   Bockenhauer, Detlef ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b LEEDS TEACHING HOSPITALS NHS TRUST   (United Kingdom)

^c UNIVERSITY OF REGENSBURG   (Germany)

^d NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^e BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

INWARDLY RECTIFYING POTASSIUM CHANNEL; PROTEIN KCNJ10; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AMPLITUDE MODULATION; ARTICLE; ATAXIA; CASE REPORT; CHILD; EAST SYNDROME; ELECTRORETINOGRAM; EPILEPSY; GENE; GENE EXPRESSION; GENE FUNCTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KCNJ10 GENE; KIDNEY TUBULE DISORDER; LIGHT; LIGHT ADAPTATION; LUMINANCE; MICHAELIS MENTEN KINETICS; MISSENSE MUTATION; MUTATIONAL ANALYSIS; NEUROLOGIC DISEASE; NIGHT VISION; PERCEPTION DEAFNESS; PHOTOPIC VISION; PRIORITY JOURNAL; SCHOOL CHILD; SENSITIVITY ANALYSIS; STIMULUS RESPONSE; WAVEFORM;

ADAPTATION, OCULAR; ADOLESCENT; ATAXIA; CASE-CONTROL STUDIES; DARK ADAPTATION; ELECTRORETINOGRAPHY; EPILEPSY; HEARING LOSS, SENSORINEURAL; HUMANS; KIDNEY DISEASES; MALE; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RETINA; SYNDROME; YOUNG ADULT;

EID: 79953143745     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/jphysiol.2010.198531     Document Type: Article

References (32)

1. Bockenhauer D, Feather S, Stanescu HC, Bandulik S, Zdebik AA, Reichold M et al (2009). Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N Engl J Med 360, 1960-1970.
2. Bringmann A, Pannicke T, Biedermann B, Francke M, Iandiev I, Grosche J et al (2009). Role of retinal glial cells in neurotransmitter uptake and metabolism. Neurochem Int 54, 143-160.
3. Connors NC & Kofuji P (2006). Potassium channel Kir4.1 macromolecular complex in retinal glial cells. Glia 53, 124-131.
4. Djukic B, Casper KB, Philpot BD, Chin LS & McCarthy KD (2007). Conditional knock-out of Kir4.1 leads to glial membrane depolarization, inhibition of potassium and glutamate uptake, and enhanced short-term synaptic potentiation. J Neurosci 27, 11354-11365.
5. Dong CJ, Agey P & Hare WA (2004). Origins of the electroretinogram oscillatory potentials in the rabbit retina. Vis Neurosci 21, 533-543.
6. Evans LS, Peachey NS & Marchese AL (1993). Comparison of three methods of estimating the parameters of the Naka-Rushton equation. Doc Ophthalmol 84, 19-30.
7. Frishman LJ & Steinberg RH (1989). Intraretinal analysis of the threshold dark-adapted ERG of cat retina. J Neurophysiol 61, 1221-1232.
8. o in proximal portion of light-adapted cat retina. J Neurophysiol 67, 1201-1212.
9. Granit R (1947). Sensory Mechanisms of the Retina. Oxford University Press, London.
10. Harada T, Harada C, Watanabe M, Inoue Y, Sakagawa T, Nakayama N et al (1998). Functions of the two glutamate transporters GLAST and GLT-1 in the retina. Proc Natl Acad Sci U S A 95, 4663-4666.
11. Ishii M, Horio Y, Tada Y, Hibino H, Inanobe A, Ito M et al (1997). Expression and clustered distribution of an inwardly rectifying potassium channel, KAB-2/Kir4.1, on mammalian retinal Muller cell membrane: their regulation by insulin and laminin signals. J Neurosci 17, 7725-7735.
12. Kofuji P, Biedermann B, Siddharthan V, Raap M, Iandiev I, Milenkovic I et al (2002). Kir potassium channel subunit expression in retinal glial cells: implications for spatial potassium buffering. Glia 39, 292-303.
13. Kofuji P, Ceelen P, Zahs KR, Surbeck LW, Lester HA & Newman EA (2000). Genetic inactivation of an inwardly rectifying potassium channel (Kir4.1 subunit) in mice: phenotypic impact in retina. J Neurosci 20, 5733-5740.
14. Kucheryavykh YV, Shuba YM, Antonov SM, Inyushin MY, Cubano L, Pearson WL et al (2008). Complex rectification of Muller cell Kir currents. Glia 56, 775-790.
15. Machida S, Raz-Prag D, Fariss RN, Sieving PA & Bush RA (2008). Photopic ERG negative response from amacrine cell signaling in RCS rat retinal degeneration. Invest Ophthalmol Vis Sci 49, 442-452.
16. Machida S, Tamada K, Oikawa T, Gotoh Y, Nishimura T, Kaneko M & Kurosaka D (2011). Comparison of photopic negative response of full-field and focal electroretinograms in detecting glaucomatous eyes. J Ophthalmol 2011, 564131.
17. Newman E & Reichenbach A (1996). The Muller cell: a functional element of the retina. Trends Neurosci 19, 307-312.
18. Newman EA (1984). Regional specialization of retinal glial cell membrane. Nature 309, 155-157.
19. Newman EA (1985). Membrane physiology of retinal glial (Muller) cells. J Neurosci 5, 2225-2239.
20. + siphoning. Science 225, 1174-1175.
21. Raz-Prag D, Grimes WN, Fariss RN, Vijayasarathy C, Campos MM, Bush RA et al (2010). Probing potassium channel function in vivo by intracellular delivery of antibodies in a rat model of retinal neurodegeneration. Proc Natl Acad Sci U S A 107, 12710-12715.
22. + ion regulation in retina. Can J Physiol Pharmacol 70(Suppl), S239-S247.
23. Reichold M, Zdebik AA, Lieberer E, Rapedius M, Schmidt K, Bandulik S et al (2010). KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc Natl Acad Sci U S A 107, 14490-14495.
24. Sakai T, Kondo M, Ueno S, Koyasu T, Komeima K & Terasaki H (2009). Supernormal ERG oscillatory potentials in transgenic rabbit with rhodopsin P347L mutation and retinal degeneration. Invest Ophthalmol Vis Sci 50, 4402-4409.
25. Sarthy VP, Pignataro L, Pannicke T, Weick M, Reichenbach A, Harada T et al (2005). Glutamate transport by retinal Muller cells in glutamate/aspartate transporter-knockout mice. Glia 49, 184-196.
26. Scholl UI, Choi M, Liu T, Ramaekers VT, Hausler MG, Grimmer J et al (2009). Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A 106, 5842-5847.
27. o in retina of intact cat eye. J Neurophysiol 44, 897-921.
28. Steinberg RH, Schmidt R & Brown KT (1970). Intracellular responses to light from cat pigment epithelium: origin of the electroretinogram c-wave. Nature 227, 728-730.
29. Ueno S, Kondo M, Niwa Y, Terasaki H & Miyake Y (2004). Luminance dependence of neural components that underlies the primate photopic electroretinogram. Invest Ophthalmol Vis Sci 45, 1033-1040.
30. Viswanathan S, Frishman LJ & Robson JG (2000). The uniform field and pattern ERG in macaques with experimental glaucoma: removal of spiking activity. Invest Ophthalmol Vis Sci 41, 2797-2810.
31. Viswanathan S, Frishman LJ, Robson JG, Harwerth RS & Smith EL III (1999). The photopic negative response of the macaque electroretinogram: reduction by experimental glaucoma. Invest Ophthalmol Vis Sci 40, 1124-1136.
32. Wu J, Marmorstein AD, Kofuji P & Peachey NS (2004). Contribution of Kir4.1 to the mouse electroretinogram. Mol Vis 10, 650-654.