| Structural highlights
9i8p is a 1 chain structure with sequence from Homo sapiens. Full crystallographic information is available from OCA. For a guided tour on the structure components use FirstGlance.
| | Method: | X-ray diffraction, Resolution 2.601Å |
| Ligands: | ADP, EDO, GOL, M3L, MG, MLY, SO4, VO4 |
| Resources: | FirstGlance, OCA, PDBe, RCSB, PDBsum, ProSAT |
Disease
MYH7_HUMAN Defects in MYH7 are the cause of familial hypertrophic cardiomyopathy type 1 (CMH1) [MIM:192600. Familial hypertrophic cardiomyopathy is a hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death.[1] [2] [3] [4] [5] [6] [7] [8] [9] [10] [11] [12] [13] [14] [15] [16] [17] [18] [19] [20] [21] [22] [23] [24] [25] [26] [27] [28] [29] [30] [31] [32] [33] [34] [35] [36] [37] [38] [39] [40] [41] [42] [43] [44] [45] [46] [47] [48] [49] [50] [51] [52] Defects in MYH7 are the cause of myopathy myosin storage (MYOMS) [MIM:608358. In this disorder, muscle biopsy shows type 1 fiber predominance and increased interstitial fat and connective tissue. Inclusion bodies consisting of the beta cardiac myosin heavy chain are present in the majority of type 1 fibers, but not in type 2 fibers.[53] [54] [55] Defects in MYH7 are the cause of scapuloperoneal myopathy MYH7-related (SPMM) [MIM:181430; also known as scapuloperoneal syndrome myopathic type. SPMM is a progressive muscular atrophia beginning in the lower legs and affecting the shoulder region earlier and more severely than distal arm.[56] Defects in MYH7 are a cause of cardiomyopathy dilated type 1S (CMD1S) [MIM:613426. Dilated cardiomyopathy is a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[57] [58] [59] [60] Defects in MYH7 are the cause of myopathy distal type 1 (MPD1) [MIM:160500. MPD1 is a muscular disorder characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, followed by weakness of the finger extensors. Mild proximal weakness occasionally develops years later after the onset of the disease.[61] [62]
Function
MYH7_HUMAN Muscle contraction.
Publication Abstract from PubMed
At the molecular level, clinical hypercontractility associated with many hypertrophic cardiomyopathy (HCM)-causing mutations in beta-cardiac myosin appears to be driven by their disruptive effect on the energy-conserving, folded-back 'OFF'-state of myosin, which results in increased number of heads free to interact with actin and produce force. While many characterized mutations likely act by directly perturbing intramolecular interfaces stabilizing the OFF-state, others may function allosterically by altering conformational states of the myosin motor. We investigate two such allosteric HCM mutations, Y115H (Transducer) and E497D (Relay helix), which do not directly contact OFF-state interfaces. Biochemical analyses and high-resolution crystallography reveal that both mutations increase active myosin head availability likely by destabilizing the pre-powerstroke conformation required for OFF-state formation. We propose that destabilization of the folded-back state of myosin, either directly or allosterically, represents a common molecular mechanism underlying hypercontractility in HCM across a broader spectrum of pathogenic mutations than previously recognized.
Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human beta-cardiac myosin allosterically.,Nandwani N, Bhowmik D, Glaser C, Childers MC, Goluguri RR, Dawood A, Regnier M, Houdusse A, Spudich JA, Ruppel KM Nat Commun. 2025 Oct 1;16(1):8751. doi: 10.1038/s41467-025-63816-1. PMID:41034214[63]
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine.
References
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- ↑ Kuang SQ, Yu JD, Lu L, He LM, Gong LS, Chen SJ, Chen Z. Identification of a novel missense mutation in the cardiac beta-myosin heavy chain gene in a Chinese patient with sporadic hypertrophic cardiomyopathy. J Mol Cell Cardiol. 1996 Sep;28(9):1879-83. PMID:8899546 doi:S0022-2828(96)90180-7
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- ↑ Andersen PS, Havndrup O, Bundgaard H, Larsen LA, Vuust J, Kjeldsen K, Christiansen M. Adult-onset familial hypertrophic cardiomyopathy caused by a novel mutation, R694C, in the MYH7 gene. Clin Genet. 1999 Sep;56(3):244-6. PMID:10563488
- ↑ Bundgaard H, Havndrup O, Andersen PS, Larsen LA, Brandt NJ, Vuust J, Kjeldsen K, Christiansen M. Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain. J Mol Cell Cardiol. 1999 Apr;31(4):745-50. PMID:10329202 doi:S0022-2828(98)90911-7
- ↑ Sakthivel S, Joseph PK, Tharakan JM, Vosberg HP, Rajamanickam C. A novel missense mutation (R712L) adjacent to the "active thiol" region of the cardiac beta-myosin heavy chain gene causing hypertrophic cardiomyopathy in an Indian family. Hum Mutat. 2000 Mar;15(3):298-9. PMID:10679957 doi:<298::AID-HUMU22>3.0.CO;2-7 10.1002/(SICI)1098-1004(200003)15:3<298::AID-HUMU22>3.0.CO;2-7
- ↑ Anan R, Shono H, Tei C. Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy. Hum Mutat. 2000 Jun;15(6):584. PMID:10862102 doi:<584::AID-HUMU25>3.0.CO;2-R 10.1002/1098-1004(200006)15:6<584::AID-HUMU25>3.0.CO;2-R
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- ↑ Havndrup O, Bundgaard H, Andersen PS, Larsen LA, Vuust J, Kjeldsen K, Christiansen M. A novel missense mutation, Leu390Val, in the cardiac beta-myosin heavy chain associated with pronounced septal hypertrophy in two families with hypertrophic cardiomyopathy. Scand Cardiovasc J. 2000 Dec;34(6):558-63. PMID:11214007
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- ↑ Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD. Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy. Circulation. 2002 Jun 25;105(25):2992-7. PMID:12081993
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- ↑ Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C, Benaiche A, Isnard R, Dubourg O, Burban M, Gueffet JP, Millaire A, Desnos M, Schwartz K, Hainque B, Komajda M. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003 May 6;107(17):2227-32. Epub 2003 Apr 21. PMID:12707239 doi:10.1161/01.CIR.0000066323.15244.54
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- ↑ Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ. Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis. Heart. 2003 Oct;89(10):1179-85. PMID:12975413
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- ↑ Bohlega S, Abu-Amero SN, Wakil SM, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler EJ, Meyer BF. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology. 2004 May 11;62(9):1518-21. PMID:15136674
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- ↑ Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, Smoot L, Mullen MP, Woolf PK, Wigle ED, Seidman JG, Seidman CE. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000 Dec 7;343(23):1688-96. PMID:11106718 doi:10.1056/NEJM200012073432304
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- ↑ Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, Komajda M. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005 Apr;26(8):794-803. Epub 2005 Mar 15. PMID:15769782 doi:ehi193
- ↑ Millat G, Bouvagnet P, Chevalier P, Sebbag L, Dulac A, Dauphin C, Jouk PS, Delrue MA, Thambo JB, Le Metayer P, Seronde MF, Faivre L, Eicher JC, Rousson R. Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5. doi: 10.1016/j.ejmg.2011.07.005. Epub, 2011 Aug 4. PMID:21846512 doi:10.1016/j.ejmg.2011.07.005
- ↑ Meredith C, Herrmann R, Parry C, Liyanage K, Dye DE, Durling HJ, Duff RM, Beckman K, de Visser M, van der Graaff MM, Hedera P, Fink JK, Petty EM, Lamont P, Fabian V, Bridges L, Voit T, Mastaglia FL, Laing NG. Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1). Am J Hum Genet. 2004 Oct;75(4):703-8. Epub 2004 Aug 20. PMID:15322983 doi:10.1086/424760
- ↑ Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A. New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7. Neurology. 2007 Jun 5;68(23):2041-2. PMID:17548557 doi:10.1212/01.wnl.0000264430.55233.72
- ↑ Nandwani N, Bhowmik D, Glaser C, Childers MC, Goluguri RR, Dawood A, Regnier M, Houdusse A, Spudich JA, Ruppel KM. Hypertrophic cardiomyopathy mutations Y115H and E497D disrupt the folded-back state of human β-cardiac myosin allosterically. Nat Commun. 2025 Oct 1;16(1):8751. PMID:41034214 doi:10.1038/s41467-025-63816-1
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