The Role of Z-disc Proteins in Myopathy and Cardiomyopathy.
Z-disc alternatively spliced PDZ-motif (ZASP)
cardiomyopathy
filamin C
missense variant
myopalladin
myopathy
myotilin
telethonin
truncating variant
α-actinin 2
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
17 Mar 2021
17 Mar 2021
Historique:
received:
18
02
2021
revised:
07
03
2021
accepted:
11
03
2021
entrez:
3
4
2021
pubmed:
4
4
2021
medline:
24
4
2021
Statut:
epublish
Résumé
The Z-disc acts as a protein-rich structure to tether thin filament in the contractile units, the sarcomeres, of striated muscle cells. Proteins found in the Z-disc are integral for maintaining the architecture of the sarcomere. They also enable it to function as a (bio-mechanical) signalling hub. Numerous proteins interact in the Z-disc to facilitate force transduction and intracellular signalling in both cardiac and skeletal muscle. This review will focus on six key Z-disc proteins: α-actinin 2, filamin C, myopalladin, myotilin, telethonin and Z-disc alternatively spliced PDZ-motif (ZASP), which have all been linked to myopathies and cardiomyopathies. We will summarise pathogenic variants identified in the six genes coding for these proteins and look at their involvement in myopathy and cardiomyopathy. Listing the Minor Allele Frequency (MAF) of these variants in the Genome Aggregation Database (GnomAD) version 3.1 will help to critically re-evaluate pathogenicity based on variant frequency in normal population cohorts.
Identifiants
pubmed: 33802723
pii: ijms22063058
doi: 10.3390/ijms22063058
pmc: PMC8002584
pii:
doi:
Substances chimiques
Muscle Proteins
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : British Heart Foundation
ID : AA/18/2/34218
Pays : United Kingdom
Organisme : British Heart Foundation
ID : FS/12/40/29712
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201543/B/16/Z
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/15/113/31944
Pays : United Kingdom
Organisme : British Heart Foundation
ID : PG/19/45/34419
Pays : United Kingdom
Organisme : Wellcome Trust
ID : 201543/Z/16/Z
Pays : United Kingdom
Organisme : National Centre for the Replacement, Refinement and Reduction of Animals in Research
ID : NC/T001747/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/V009540/1
Pays : United Kingdom
Organisme : British Heart Foundation
ID : RE/13/1/30181
Pays : United Kingdom
Références
Hum Mutat. 2018 Sep;39(9):1161-1172
pubmed: 29858533
Neuromuscul Disord. 2017 Sep;27(9):856-860
pubmed: 28666572
BMC Med Genet. 2014 Sep 16;15:99
pubmed: 25224718
Mol Genet Metab. 2006 May;88(1):71-7
pubmed: 16427346
J Muscle Res Cell Motil. 2009;30(5-6):171-85
pubmed: 19830582
J Neurol. 2012 Sep;259(9):1913-22
pubmed: 22349865
Biochem J. 2011 May 15;436(1):113-21
pubmed: 21361873
J Cell Sci. 2014 Aug 15;127(Pt 16):3578-92
pubmed: 24963132
Hum Genet. 2006 Nov;120(4):487-99
pubmed: 16927100
Clin Transl Sci. 2008 May;1(1):21-6
pubmed: 19412328
Clin Genet. 2017 Dec;92(6):616-623
pubmed: 28436997
Clin Genet. 2015 Aug;88(2):172-6
pubmed: 25041374
Neuromuscul Disord. 1994 Sep-Nov;4(5-6):471-5
pubmed: 7881291
Biochem Biophys Res Commun. 2006 Dec 29;351(4):896-902
pubmed: 17097056
PLoS One. 2014 Jul 23;9(7):e102763
pubmed: 25055047
Neuromuscul Disord. 2018 Aug;28(8):625-632
pubmed: 29935994
Nat Cell Biol. 2004 Nov;6(11):1034-8
pubmed: 15516996
PLoS One. 2014 Mar 19;9(3):e92259
pubmed: 24647531
Neuropathology. 2017 Feb;37(1):45-51
pubmed: 27546599
Am J Hum Genet. 2011 Jun 10;88(6):729-740
pubmed: 21620354
Int Rev Cytol. 2005;246:31-58
pubmed: 16164966
Heart Fail Rev. 2020 Feb 13;:
pubmed: 32056050
J Biol Chem. 2004 Feb 20;279(8):6746-52
pubmed: 14660611
Hum Mol Genet. 2003 Jan 15;12(2):189-203
pubmed: 12499399
Sci Rep. 2017 Dec 13;7(1):17495
pubmed: 29235529
Clin Cardiol. 2013 Oct;36(10):628-33
pubmed: 24037902
Circ Cardiovasc Genet. 2014 Dec;7(6):741-50
pubmed: 25173926
J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27
pubmed: 14662268
J Cell Biol. 2001 Nov 12;155(4):605-12
pubmed: 11696561
Hum Mol Genet. 2016 Mar 1;25(5):866-77
pubmed: 26681802
Eur J Hum Genet. 2013 Mar;21(3):294-300
pubmed: 22892539
Acta Neuropathol Commun. 2015 Nov 10;3:68
pubmed: 26555887
Neuromuscul Disord. 2017 Jan;27(1):73-77
pubmed: 27816332
Neuromuscul Disord. 2018 Jun;28(6):532-537
pubmed: 29759638
Acta Neuropathol. 2009 Mar;117(3):293-307
pubmed: 19151983
J Neuromuscul Dis. 2016 May 27;3(2):275-281
pubmed: 27854214
Am J Physiol Cell Physiol. 2017 Aug 1;313(2):C134-C145
pubmed: 28539306
J Cell Biol. 1962 May;13:323-35
pubmed: 14457201
Cardiology. 2000;94(1):1-11
pubmed: 11111138
Neuropathol Appl Neurobiol. 2008 Feb;34(1):76-87
pubmed: 17931355
Trends Cardiovasc Med. 2007 Nov;17(8):258-62
pubmed: 18021935
Clin Chim Acta. 2016 Jan 30;453:80-5
pubmed: 26688388
Genet Med. 2017 Feb;19(2):192-203
pubmed: 27532257
Brain. 2007 Jun;130(Pt 6):1477-84
pubmed: 17337483
Acta Neuropathol Commun. 2020 Sep 4;8(1):154
pubmed: 32887649
Circ Cardiovasc Genet. 2017 Aug;10(4):
pubmed: 28798025
Skelet Muscle. 2019 May 27;9(1):14
pubmed: 31133047
J Cell Sci. 2016 Apr 15;129(8):1661-70
pubmed: 26929074
Neuromuscul Disord. 2008 Dec;18(12):929-33
pubmed: 18948002
Nat Rev Cardiol. 2013 Sep;10(9):531-47
pubmed: 23900355
Eur Heart J. 2008 Jan;29(2):270-6
pubmed: 17916581
J Am Coll Cardiol. 2014 Dec 30;64(25):2765-76
pubmed: 25541130
Nature. 2020 May;581(7809):434-443
pubmed: 32461654
Hum Mol Genet. 2012 Sep 15;21(18):4073-83
pubmed: 22706277
Rev Neurol (Paris). 2016 Oct;172(10):594-606
pubmed: 27633507
Ann Neurol. 2005 Feb;57(2):269-76
pubmed: 15668942
Am J Pathol. 2012 Apr;180(4):1570-80
pubmed: 22349301
Int J Cardiol. 2020 May 15;307:101-108
pubmed: 31627847
Circulation. 2019 Aug 27;140(9):765-778
pubmed: 31315475
Neurol Clin. 2013 Nov;31(4):1009-29
pubmed: 24176421
FEBS Lett. 1997 Sep 29;415(2):163-8
pubmed: 9350988
J Cell Biol. 2001 Apr 16;153(2):413-27
pubmed: 11309420
J Mol Biol. 2005 Jul 22;350(4):713-22
pubmed: 15967462
Biochemistry. 2003 Jan 21;42(2):430-9
pubmed: 12525170
J Neurol. 2011 Aug;258(8):1437-44
pubmed: 21336781
Acta Neuropathol Commun. 2016 Feb 03;4:8
pubmed: 26842778
Mol Genet Metab. 2003 Sep-Oct;80(1-2):207-15
pubmed: 14567970
Hum Mutat. 2020 Sep;41(9):1600-1614
pubmed: 32516863
Nat Genet. 2017 Nov;49(11):1593-1601
pubmed: 28991257
Rev Port Cardiol. 2019 Jun;38(6):441-447
pubmed: 31303467
Nat Rev Mol Cell Biol. 2001 Feb;2(2):138-45
pubmed: 11252955
Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):326-336
pubmed: 31317183
FASEB J. 2012 Oct;26(10):4230-42
pubmed: 22767232
Muscle Nerve. 2012 Aug;46(2):275-82
pubmed: 22806379
Sci Rep. 2017 Jun 21;7(1):3993
pubmed: 28638118
J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451
pubmed: 27908349
J Cell Sci. 2005 Aug 15;118(Pt 16):3739-49
pubmed: 16076904
Cell Mol Life Sci. 2008 Sep;65(17):2688-701
pubmed: 18488141
Eur J Hum Genet. 2016 Dec;24(12):1792-1796
pubmed: 27601210
J Am Coll Cardiol. 2004 Dec 7;44(11):2192-201
pubmed: 15582318
Neuromuscul Disord. 2015 Apr;25(4):349-52
pubmed: 25724973
Cell. 2014 Dec 4;159(6):1447-60
pubmed: 25433700
JACC Basic Transl Sci. 2016 Aug;1(5):344-359
pubmed: 28008423
J Hum Genet. 2017 Feb;62(2):243-252
pubmed: 27708273
N Engl J Med. 2011 Apr 28;364(17):1643-56
pubmed: 21524215
Hum Mutat. 2014 Sep;35(9):1046-59
pubmed: 24980681
Hum Mol Genet. 2016 Jun 1;25(11):2131-2142
pubmed: 26969713
Biochem Biophys Res Commun. 2015 May 29;461(2):217-23
pubmed: 25866181
Curr Biol. 2010 Jan 26;20(2):143-8
pubmed: 20060297
J Med Genet. 2020 Apr;57(4):254-257
pubmed: 31924696
Circ Genom Precis Med. 2018 Aug;11(8):e002151
pubmed: 30354339
Ann Neurol. 2019 Jun;85(6):899-906
pubmed: 30900782
Mol Genet Metab. 2006 Nov;89(3):286-7
pubmed: 16650785
Biochem Biophys Res Commun. 2011 May 27;409(1):64-9
pubmed: 21549096
J Neuropathol Exp Neurol. 2009 Jun;68(6):701-7
pubmed: 19458539
Chin Med J (Engl). 2018 Dec 20;131(24):2986-2988
pubmed: 30539912
Cell. 2003 Apr 4;113(1):37-47
pubmed: 12679033
Circ Cardiovasc Genet. 2017 Dec;10(6):
pubmed: 29212899
Autophagy. 2013 Mar;9(3):422-3
pubmed: 23238331
Ann Noninvasive Electrocardiol. 2020 May;25(3):e12687
pubmed: 31524317
Cardiovasc Res. 2009 Jul 1;83(1):80-8
pubmed: 19377068
Mol Cell Proteomics. 2017 Mar;16(3):346-367
pubmed: 28028127
J Cell Biol. 2000 Oct 16;151(2):235-48
pubmed: 11038172
Neuromuscul Disord. 2021 Jan;31(1):44-51
pubmed: 33308939
Hum Mol Genet. 2010 Jun 1;19(11):2268-83
pubmed: 20233748
Anat Rec (Hoboken). 2014 Sep;297(9):1596-603
pubmed: 25125173
Hum Mol Genet. 2016 Jul 1;25(13):2776-2788
pubmed: 27206985
Clin Genet. 2019 Oct;96(4):317-329
pubmed: 31245841
J Heart Lung Transplant. 2016 May;35(5):625-35
pubmed: 26899768
Ann Neurol. 2017 Mar;81(3):467-473
pubmed: 28220527
Brain. 2007 Dec;130(Pt 12):3250-64
pubmed: 18055494
Mayo Clin Proc. 2019 May;94(5):906-913
pubmed: 30935706
Circ Res. 2011 Sep 16;109(7):758-69
pubmed: 21799151
Neuromuscul Disord. 2011 Aug;21(8):533-42
pubmed: 21676617
Autophagy. 2015;11(3):538-46
pubmed: 25714469
Exp Cell Res. 2005 Oct 15;310(1):131-9
pubmed: 16122733
Neurology. 2004 Apr 27;62(8):1363-71
pubmed: 15111675
Neuromuscul Disord. 2015 May;25(5):418-22
pubmed: 25728519
Brain. 2012 Sep;135(Pt 9):2642-60
pubmed: 22961544
J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8
pubmed: 17698502
Cytogenet Genome Res. 2019;157(3):148-152
pubmed: 30630173
Hum Mutat. 2020 Jun;41(6):1091-1111
pubmed: 32112656
J Cell Biol. 1999 Jul 26;146(2):465-75
pubmed: 10427098
Hum Mutat. 2018 Dec;39(12):2083-2096
pubmed: 30260051
Biochem J. 2016 Aug 15;473(16):2485-93
pubmed: 27287556
Neurology. 2005 Dec 27;65(12):1936-40
pubmed: 16380616
Eur J Heart Fail. 2006 Aug;8(5):484-93
pubmed: 16386954
Mol Genet Metab. 2006 May;88(1):78-85
pubmed: 16352453
Hum Mol Genet. 2000 Sep 1;9(14):2141-7
pubmed: 10958653
Cells. 2018 Dec 07;7(12):
pubmed: 30544588
Biochemistry. 2017 Apr 11;56(14):2061-2070
pubmed: 28349680
Elife. 2019 Nov 20;8:
pubmed: 31746737
Proc Natl Acad Sci U S A. 2000 Oct 24;97(22):12074-8
pubmed: 11050238
Rev Port Cardiol. 2020 Jun;39(6):317-327
pubmed: 32565061
Circulation. 2020 Mar 10;141(10):869-871
pubmed: 32150467
Mol Cell Biol. 2006 Sep;26(17):6522-34
pubmed: 16914736
Hum Mol Genet. 2012 May 1;21(9):2039-53
pubmed: 22286171
Mol Biol Cell. 2007 Dec;18(12):4731-40
pubmed: 17898075
Biochim Biophys Acta Mol Cell Res. 2020 Mar;1867(3):118440
pubmed: 30738787
Am J Hum Genet. 2017 Jan 5;100(1):169-178
pubmed: 28017374
Nat Commun. 2014 Oct 29;5:5326
pubmed: 25351925
BMC Neurol. 2019 Aug 17;19(1):198
pubmed: 31421687
J Neuromuscul Dis. 2017;4(4):315-325
pubmed: 29172004
Muscle Nerve. 2017 Nov;56(5):993-997
pubmed: 28256728
Nat Genet. 2000 Feb;24(2):163-6
pubmed: 10655062
Nat Genet. 1999 Apr;21(4):353-4
pubmed: 10192379
Acta Neuropathol. 2013 Jan;125(1):33-46
pubmed: 23109048
Annu Rev Biophys. 2012;41:227-46
pubmed: 22404683
J Cell Biol. 1990 Sep;111(3):1089-105
pubmed: 2391361
Hum Genomics. 2018 Jul 3;12(1):34
pubmed: 29970176
Neuromuscul Disord. 2020 Feb;30(2):137-143
pubmed: 32005491
J Biol Chem. 2014 May 9;289(19):13615-26
pubmed: 24668811
J Muscle Res Cell Motil. 2019 Jun;40(2):159-167
pubmed: 31147888
JAMA Neurol. 2015 Dec;72(12):1424-32
pubmed: 26436962
Neuromuscul Disord. 2015 Apr;25(4):289-96
pubmed: 25617006
Science. 2014 Nov 28;346(6213):1258096
pubmed: 25430774
Expert Rev Mol Med. 2008 Sep 03;10:e25
pubmed: 18764962
Hum Mol Genet. 1999 Jul;8(7):1329-36
pubmed: 10369880
Circ Cardiovasc Genet. 2017 Apr;10(2):
pubmed: 28356264
PLoS One. 2015 Aug 31;10(8):e0136969
pubmed: 26322797
Mol Cell Biol. 2009 Feb;29(3):822-34
pubmed: 19047374
Sci Rep. 2013;3:1642
pubmed: 23571456
Dev Dyn. 2010 Apr;239(4):1124-35
pubmed: 20235223
J Cell Biol. 2000 Jan 10;148(1):115-26
pubmed: 10629222
Trends Neurosci. 1989 Nov;12(11):462-7
pubmed: 2479149
Dev Biol. 2006 Nov 15;299(2):356-72
pubmed: 16982050
J Neurol Sci. 2019 Mar 15;398:75-78
pubmed: 30685713
Cell. 2013 Mar 14;152(6):1365-75
pubmed: 23498943
Structure. 2004 Apr;12(4):611-22
pubmed: 15062084
IUBMB Life. 2001 May;51(5):275-82
pubmed: 11699871
Mol Genet Genomic Med. 2018 Nov;6(6):1104-1113
pubmed: 30411535
Am J Hum Genet. 2005 Aug;77(2):297-304
pubmed: 15929027
Hum Mutat. 2016 Mar;37(3):269-79
pubmed: 26666891
PLoS One. 2017 Apr 12;12(4):e0175343
pubmed: 28403181
Circ Cardiovasc Genet. 2013 Dec;6(6):543-51
pubmed: 24114807
J Am Coll Cardiol. 2010 Mar 16;55(11):1127-35
pubmed: 20022194
Neurology. 2011 Dec 13;77(24):2105-14
pubmed: 22131542
JACC Clin Electrophysiol. 2018 Apr;4(4):504-514
pubmed: 30067491
Handb Clin Neurol. 2011;101:143-54
pubmed: 21496631
BMC Neurol. 2018 Jun 4;18(1):79
pubmed: 29866061
Cardiovasc Res. 2008 Jan;77(1):118-25
pubmed: 18006477
Muscle Nerve. 2008 May;37(5):663-7
pubmed: 18335471
Trends Biochem Sci. 2006 Jul;31(7):411-9
pubmed: 16781869
Mech Ageing Dev. 2013 Jan-Feb;134(1-2):60-3
pubmed: 23246341
Mol Cell Biol. 2007 Jan;27(1):244-52
pubmed: 17074808
Neurogenetics. 2014 Aug;15(3):151-6
pubmed: 24928145
Int J Cardiol. 2010 Dec 3;145(3):601-2
pubmed: 20801532
Int J Biochem Cell Biol. 2006 Mar;38(3):404-13
pubmed: 16297652
Am J Hum Genet. 2002 Dec;71(6):1428-32
pubmed: 12428213
EMBO Mol Med. 2019 Dec;11(12):e11115
pubmed: 31680489
Neuromuscul Disord. 2010 Jun;20(6):390-6
pubmed: 20417099