Cav1.3 (CACNA1D) L-type Ca2+ channel dysfunction in CNS disorders

Journal of Physiology

Volumn 594, Issue 20, 2016, Pages 5839-5849

  Pinggera, Alexandra ^a   Striessnig, Jörg ^a  

^a INNSBRUCK MEDICAL UNIVERSITY   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL L TYPE; VOLTAGE GATED CALCIUM CHANNEL;

ANIMAL EXPERIMENT; ANIMAL MODEL; AUTISM; CACNA1D GENE; CALCIUM CHANNELOPATHY; CALCIUM CURRENT; CALCIUM SIGNALING; CENTRAL NERVOUS SYSTEM DISEASE; EXOME; FEMALE; FIRING RATE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HEARING; HETEROZYGOTE; HORMONE RELEASE; HUMAN; MENTAL DISEASE; MISSENSE MUTATION; MOUSE; NERVE CELL PLASTICITY; NEUROLOGIC DISEASE; NONHUMAN; PRIMARY HYPERALDOSTERONISM; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN INTERACTION; REVIEW; SEIZURE;

EID: 84959271390     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/JP270672     Document Type: Review

References (51)

1. 2+ regulation. Cell 159, 608–622.
2. Akerstrom T, Willenberg HS, Cupisti K, Ip J, Backman S, Moser A, Maharjan R, Robinson B, Iwen KA, Dralle H, Volpe CD, Backdahl M, Botling J, Stalberg P, Westin G, Walz MK, Lehnert H, Sidhu S, Zedenius J, Bjorklund P & Hellman P (2015). Novel somatic mutations and distinct molecular signature in aldosterone-producing adenomas. Endocr Relat Cancer 22, 735–744.
3. Azizan EA, Poulsen H, Tuluc P, Zhou J, Clausen MV, Lieb A, Maniero C, Garg S, Bochukova EG, Zhao W, Shaikh LH, Brighton CA, Teo AE, Davenport AP, Dekkers T, Tops B, Kusters B, Ceral J, Yeo GS, Neogi SG, McFarlane I, Rosenfeld N, Marass F, Hadfield J, Margas W, Chaggar K, Solar M, Deinum J, Dolphin AC, Farooqi IS, Striessnig J, Nissen P & Brown MJ (2013). Somatic mutations in ATP1A1 and CACNA1D underlie a common subtype of adrenal hypertension. Nat Genet 45, 1055–1060.
4. v1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness. Nat Neurosci 14, 77–84.
5. Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM & Reincke M (2013). Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension. Nat Genet 45, 440–444.
6. v1.2) in the pathophysiology of psychiatric disease. Prog Neurobiol 99, 1–14.
7. Breitenkamp AF, Matthes J & Herzig S (2015). Voltage-gated calcium channels and autism spectrum disorders. Curr Mol Pharmacol 8, 123–132.
8. Day M, Wang Z, Ding J, An X, Ingham CA, Shering AF, Wokosin D, Ilijic E, Sun Z, Sampson AR, Mugnaini E, Deutch AY, Sesack SR, Arbuthnott GW & Surmeier DJ (2006). Selective elimination of glutamatergic synapses on striatopallidal neurons in Parkinson disease models. Nat Neurosci 9, 251–259.
9. De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Ercument Cicek A, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Fu SC, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Crooks L, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza I, Jimenez Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei J, Lehtimaki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnstrom K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Ruther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Wang LS, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barrett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ & Buxbaum JD (2014). Synaptic, transcriptional and chromatin genes disrupted in autism. Nature 515, 209–215.
10. Dekkers T, ter Meer M, Lenders JW, Hermus AR, Schultze Kool L, Langenhuijsen JF, Nishimoto K, Ogishima T, Mukai K, Azizan EA, Tops B, Deinum J & Kusters B (2014). Adrenal nodularity and somatic mutations in primary aldosteronism: one node is the culprit? J Clin Endocrinol Metab 99, E1341–E1351.
11. v channels. Nature 451, 830–834.
12. 2δ subunits of voltage-gated calcium channels. Biochim Biophys Acta 1828, 1541–1549.
13. Fernandes-Rosa FL, Giscos-Douriez I, Amar L, Gomez-Sanchez CE, Meatchi T, Boulkroun S & Zennaro MC (2015). Different somatic mutations in multinodular adrenals with aldosterone-producing adenoma. Hypertension 66, 1014–1022.
14. Fernandes-Rosa FL, Williams TA, Riester A, Steichen O, Beuschlein F, Boulkroun S, Strom TM, Monticone S, Amar L, Meatchi T, Mantero F, Cicala MV, Quinkler M, Fallo F, Allolio B, Bernini G, Maccario M, Giacchetti G, Jeunemaitre X, Mulatero P, Reincke M & Zennaro MC (2014). Genetic spectrum and clinical correlates of somatic mutations in aldosterone-producing adenoma. Hypertension 64, 354–361.
15. v1.2 isoforms. Neuroscience 139, 1005–1015.
16. Hille B, Dickson EJ, Kruse M, Vivas O & Suh BC (2014). Phosphoinositides regulate ion channels. Biochim Biophys Acta 1851, 844–856.
17. v1.3 calcium channels are required for normal development of the auditory brainstem. J Neurosci 31, 8280–8294.
18. v1.3 calcium channels. J Neurosci 32, 14602–14616.
19. v1.2 calcium channels: from in vitro findings to in vivo function. Physiol Rev 94, 303–326.
20. Hu C, Rusin CG, Tan Z, Guagliardo NA & Barrett PQ (2012). Zona glomerulosa cells of the mouse adrenal cortex are intrinsic electrical oscillators. J Clin Invest 122, 2046–2053.
21. 2+-dependent inactivation. Neuron 73, 304–316.
22. 2+ response in rat adrenal glomerulosa cells. Am J Physiol Cell Physiol 266, C67–C72.
23. Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR & Wigler M (2012). De novo gene disruptions in children on the autistic spectrum. Neuron 74, 285–299.
24. v1.2 calcium channel function. J Biol Chem 290, 21086–21100.
25. Klassen T, Davis C, Goldman A, Burgess D, Chen T, Wheeler D, McPherson J, Bourquin T, Lewis L, Villasana D, Morgan M, Muzny D, Gibbs R & Noebels J (2011). Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy. Cell 145, 1036–1048.
26. 2+ channels in sensory cells. In Pathologies of Calcium Channels, ed. Weiss N & Koschak A, pp. 47–75. Springer, Berlin, Heidelberg.
27. v1.3 knockout mice. Neurobiol Learn Mem 92, 519–528.
28. Nishimoto K, Tomlins SA, Kuick R, Cani AK, Giordano TJ, Hovelson DH, Liu CJ, Sanjanwala AR, Edwards MA, Gomez-Sanchez CE, Nanba K & Rainey WE (2015). Aldosterone-stimulating somatic gene mutations are common in normal adrenal glands. Proc Natl Acad Sci USA 112, E4591–E4599.
29. O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J & Eichler EE (2012). Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature 485, 246–250.
30. 2+ channels is dependent on a Shank-binding domain. J Neurosci 25, 1050–1062.
31. Perez-Reyes E (2003). Molecular physiology of low-voltage-activated T-type calcium channels. Physiol Rev 83, 117–161.
32. v1.3 L-type calcium channels. Biol Psychiatry 77, 816–822.
33. 2+ channels. Cell 102, 89–97.
34. Rossier MF, Burnay MM, Vallotton MB & Capponi AM (1996). Distinct functions of T- and L-type calcium channels during activation of bovine adrenal glomerulosa cells. Endocrinology 137, 4817–4826.
35. Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P & Lifton RP (2013). Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism. Nat Genet 45, 1050–1054.
36. Scholl UI, Healy JM, Thiel A, Fonseca AL, Brown TC, Kunstman JW, Horne MJ, Dietrich D, Riemer J, Kucukkoylu S, Reimer EN, Reis AC, Goh G, Kristiansen G, Mahajan A, Korah R, Lifton RP, Prasad ML & Carling T (2015a). Novel somatic mutations in primary hyperaldosteronism are related to the clinical, radiological and pathological phenotype. Clin Endocrinol (Oxf) 83, 779–789.
37. Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C & Lifton RP (2015b). Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism. Elife 4, e06315.
38. 2+-dependent inactivation within auditory hair cells. J Neurosci 26, 10690–10699.
39. Sinnegger-Brauns MJ, Hetzenauer A, Huber IG, Renstrom E, Wietzorrek G, Berjukov S, Cavalli M, Walter D, Koschak A, Waldschutz R, Hering S, Bova S, Rorsman P, Pongs O, Singewald N & Striessnig J (2004). Isoform-specific regulation of mood behavior and pancreatic beta cell and cardiovascular function by L-type Calcium channels. J Clin Invest 113, 1430–1439.
40. Smoller JW, Craddock N, Kendler K, Lee PH, Neale BM, Nurnberger JI, Ripke S, Santangelo S & Sullivan PF (2013). Identification of risk loci with shared effects on five major psychiatric disorders: a genome-wide analysis. Lancet 381, 1371–1379.
41. Soldatov NM (2015). CACNB2: An emerging pharmacological target for hypertension, heart failure, arrhythmia and mental disorders. Curr Mol Pharmacol 8, 32–42.
42. Splawski I, Timothy KW, Decher N, Kumar P, Sachse FB, Beggs AH, Sanguinetti MC & Keating MT (2005). Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci USA 102, 8089–8096; discussion 8086–8088.
43. v1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119, 19–31.
44. Striessnig J, Ortner NJ & Pinggera A (2015). Pharmacology of L-type calcium channels: novel drugs for old targets? Curr Mol Pharmacol 8, 110–122.
45. 2+ channels in heart and brain. Wiley Interdiscip Rev Membr Transp Signal 3, 15–38.
46. Sulzer D & Surmeier DJ (2013). Neuronal vulnerability, pathogenesis, and Parkinson's disease. Mov Disord 28, 41–50.
47. Tan BZ, Jiang F, Tan MY, Yu D, Huang H, Shen Y & Soong TW (2011). Functional characterization of alternative splicing in the C terminus of L-type CaV1.3 channels. J Biol Chem 286, 42725–42735.
48. 2+/calmodulin complex. Nat Struct Mol Biol 12, 1108–1115.
49. v1.3 channels as key regulators of neuron-like firings and catecholamine release in chromaffin cells. Curr Mol Pharmacol 8, 149–161.
50. Wang B, Li X, Zhang X, Ma X, Chen L, Zhang Y, Lyu X, Tang Y, Huang Q, Gao Y, Fan Y & Ouyang J (2015). Prevalence and characterization of somatic mutations in chinese aldosterone-producing adenoma patients. Medicine (Baltimore) 94, e708.
51. Zamponi GW, Striessnig J, Koschak A & Dolphin AC (2015). The physiology, pathology, and pharmacology of voltage-gated calcium channels and their future therapeutic potential. Pharmacol Rev 67, 821–870.