Muscle dysfunction caused by a KATP channel mutation in neonatal diabetes is neuronal in origin

Science

Volumn 329, Issue 5990, 2010, Pages 458-461

  Clark, Rebecca H ^a   McTaggart, James S ^a   Webster, Richard ^b   Mannikko, Roope ^a   Iberl, Michaela ^a   Sim, Xiu Li ^a   Rorsman, Patrik ^c   Glitsch, Maike ^a   Beeson, David ^b   Ashcroft, Frances M ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

^c CHURCHILL HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE SENSITIVE POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; METHIONINE; VALINE;

BRAIN; DIABETES; MUSCLE; MUTATION; PERMEABILITY; PHYSIOLOGY;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CENTRAL NERVOUS SYSTEM; CLINICAL FEATURE; CONTROLLED STUDY; DIABETES MELLITUS; GENE EXPRESSION; GENE MUTATION; GENE TARGETING; HUMAN; HYPERACTIVITY; LOCOMOTION; MOTOR DYSFUNCTION; MOUSE; MUSCLE; MUSCLE DISEASE; MUSCLE HYPOTONIA; MUSCLE INNERVATION; MUSCLE WEAKNESS; NERVE; NERVE CELL; NEURONAL CHANNELOPATHY; NEWBORN; NEWBORN DIABETES MELLITUS; NEWBORN DISEASE; NONHUMAN; PERIPHERAL NERVE; PRIORITY JOURNAL;

ADENOSINE TRIPHOSPHATE; ANIMALS; ATAXIA; ATP-BINDING CASSETTE TRANSPORTERS; DIABETES MELLITUS; FEMALE; GENE TARGETING; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE POTENTIALS; MICE; MICE, TRANSGENIC; MOTOR ACTIVITY; MUSCLE HYPOTONIA; MUSCLE STRENGTH; MUSCLES; NEURONS; PATCH-CLAMP TECHNIQUES; POSTURAL BALANCE; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PURKINJE CELLS; RECEPTORS, DRUG; SYNDROME;

MUS;

EID: 77954840889     PISSN: 00368075     EISSN: 10959203     Source Type: Journal    
DOI: 10.1126/science.1186146     Document Type: Article

References (22)

1. A. T. Hattersley, F. M. Ashcroft, Diabetes 54, 2503 (2005).
2. F. M. Ashcroft, Am. J. Physiol. 293, E880 (2007).
3. C. G. Nichols, Nature 440, 470 (2006).
4. C. A. Girard et al., J. Clin. Investig. 119, 80 (2009).
5. Materials and methods are available as supporting material on Science Online.
6. N. Zerangue, B. Schwappach, Y. N. Jan, L. Y. Jan, Neuron 22, 537 (1999).
7. J. V. Sagen et al., Diabetes 53, 2713 (2004).
8. A. S. Slingerland et al., Diabet. Med. 25, 277 (2008).
9. W. Mlynarski et al., Nat. Clin. Pract. Neurol. 3, 640 (2007).
10. C. Karschin, C. Ecke, F. M. Ashcroft, A. Karschin, FEBS Lett. 401, 59 (1997).
11. C. Mourre, C. Widmann, M. Lazdunski, Brain Res. 519, 29 (1990).
12. S. J. Tucker, F. M. Gribble, C. Zhao, S. Trapp, F. M. Ashcroft, Nature 387, 179 (1997).
13. C. G. Nichols et al., Science 272, 1785 (1996).
14. E. R. Pearson et al., N. Engl. J. Med. 355, 467 (2006).
15. F. M. Gribble, F. Reimann, Diabetologia 46, 875 (2003).
16. A. S. Slingerland, R. Nuboer, M. Hadders-Algra, A. T. Hattersley, G. J. Bruining, Diabetologia 49, 2559 (2006).
17. J. C. Koster et al., J. Clin. Endocrinol. Metab. 93, 1054 (2008).
18. U. Quast, D. Stephan, S. Bieger, U. Russ, Diabetes 53 (suppl.), S156 (2004).
19. S. H. Simpson, S. R. Majumdar, R. T. Tsuyuki, D. T. Eurich, J. A. Johnson, Can. Med. Assoc. J. 174, 169 (2006).
20. UK Prospective Diabetes Study (UKPDS) Group, Lancet 352, 837 (1998).
21. S. Ghosh, N. B. Standen, M. Galiñianes, J. Am. Coll. Cardiol. 37, 711 (2001).
22. We thank C. Girard for generating the ROSA mouse and help with early experiments; J. Brüning for the Mck-Cre mice; R. Deacon for help with the mouse behavioral tests and for the use of the OXION mouse behavior facility; and the Wellcome Trust, the Medical Research Council, the Royal Society, the European Union (LHSB-CT-2004-005137 and HEALTH-F4-2007-201924), the Muscular Dystrophy Campaign, and Myasthenia Gravis Association for support. R.H.C. holds an OXION Wellcome Trust prize studentship and J.S.M. holds a Medical Research Council studentship. F.M.A. is a Royal Society University Research Professor.