Association of 25 bp Deletion in MYBPC3 Gene with Left Ventricle Dysfunction in Coronary Artery Disease Patients

@article{Srivastava2011AssociationO2,
  title={Association of 25 bp Deletion in MYBPC3 Gene with Left Ventricle Dysfunction in Coronary Artery Disease Patients},
  author={Anshika Srivastava and Naveen Garg and Tulika Mittal and Roopali Khanna and Shipra Gupta and Prahlad Kishore Seth and Balraj Mittal},
  journal={PLoS ONE},
  year={2011},
  volume={6}
}
Rationale Mutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. An intronic 25-bp deletion in MYBPC3 at 3′ region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies in Southeast Asia. However, the frequency of MYBPC3 25 bp deletion and associated clinical presentation has not been established in an unrelated cohort of left ventricular dysfunction (LVD) secondary to coronary artery disease (CAD) patients… 
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Role of common sarcomeric gene polymorphisms in genetic susceptibility to left ventricular dysfunction
TLDR
The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of LVD (LVEF <45) and other parameters of LV remodelling, i.e. LV dimensions (LV end diastole dimension,LVEDD: P = 0.037 and LV end systolic dimension, LVESD: 0.032).
Genetic, clinical, molecular, and pathogenic aspects of the South Asian–specific polymorphic MYBPC3Δ25bp variant
TLDR
The goal of this review article is to summarize the current research dedicated to understanding the molecular pathophysiology of HCM in South Asians with the MYBPC3Δ25bp variant and to provide a foundation for developing new diagnostic strategies and advances in therapeutics.
Role of inflammatory gene polymorphisms in left ventricular dysfunction (LVD) susceptibility in coronary artery disease (CAD) patients.
Sarcomeric Gene Variants and Their Role with Left Ventricular Dysfunction in Background of Coronary Artery Disease
TLDR
The role of the sarcomeric genes in LVD in CAD patients, which is a major cause of cardiac failure and results in heart failure, is explored.
MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation
TLDR
The effects of cMyBP-CC10mut on cardiac function is examined, emphasizing the need for the development of genetic testing and expanded therapeutic strategies to prevent the adverse clinical effects of this polymorphic mutation.
Role of angiotensin II type I (AT1 A1166C) receptor polymorphism in susceptibility of left ventricular dysfunction.
South Asian-Specific MYBPC3Δ25bp Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress
TLDR
The data support that MYBPC3Δ25bp is associated with LV hypercontraction under stress conditions with evidence of diastolic impairment and right ventricle functional differences between the two groups.
Association of matrix metalloproteinases (MMP2, MMP7 and MMP9) genetic variants with left ventricular dysfunction in coronary artery disease patients.
Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3&Dgr;25bp Intronic Deletion in South Asian Descendants
TLDR
Findings support that a subset of MYBPC3&Dgr;25bp carriers, those with D389V, account for the increased risk attributed to the genetic variant, which is an early finding in hypertrophic cardiomyopathy and thought to reflect an unfavorable energetic state.
Association of South Asian-specific MYBPC3Δ deletion polymorphism and cardiomyopathy: A systematic review and meta-analysis
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References

SHOWING 1-10 OF 35 REFERENCES
Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.
A frameshift deletion mutation in the cardiac myosin-binding protein C gene associated with dilated phase of hypertrophic cardiomyopathy and dilated cardiomyopathy.
A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia
TLDR
A deletion of 25 bp in the gene encoding cardiac myosin binding protein C (MYBPC3) is described that is associated with heritable cardiomyopathies and an increased risk of heart failure in Indian populations.
Association between aldosterone synthase (CYP11B2) gene polymorphism and left ventricular volume in patients with dilated cardiomyopathy
TLDR
Compared retrospectively the left ventricular characteristics, haemodynamic parameters, and biochemical data with the CYP11B2 genotype in patients with idiopathic dilated cardiomyopathy (DCM) with the T-344C polymorphism, to elucidate whether this polymorphism represents a susceptibility gene to DCM.
Sarcomere Mutations in Cardiomyopathy With Left Ventricular Hypertrabeculation
TLDR
Genetic testing should be considered for cardiomyopathy with hypertrabeculation, especially in patients with a family history of congestive heart failure where 3 individuals in the family were found to have the MYH7 mutation R1250W.
SCN5A Mutation Associated With Dilated Cardiomyopathy, Conduction Disorder, and Arrhythmia
TLDR
The findings expand the clinical spectrum of disorders of the cardiac sodium channel to include cardiac dilation and dysfunction and support the hypothesis that genes encoding ion channels can be implicated in dilated cardiomyopathies.
Limited Distribution of a Cardiomyopathy‐Associated Variant in India
TLDR
The results indicate that the MYBPC3 deletion is primarily found among Indian populations and that its distribution is consistent with genome‐wide patterns of variation in India.
Sarcomere Protein Gene Mutations in Hypertrophic Cardiomyopathy of the Elderly
TLDR
Hypertrophic cardiomyopathy of the elderly can be a genetic disorder caused by dominant sarcomere protein mutations, and mutations in cardiac myosin binding protein-C, troponin I, and &agr;-cardiac myOSin heavy chain caused elderly-onset hypertrophic carduomyopathy.
Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy
...
1
2
3
4
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