Related Experiment Video

Updated: Feb 25, 2026

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

4.3K

Novel linkage of LMNA Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study

Avinanda Banerjee1, Pradip K Ghoshal2, Kaushik Sengupta1

  • 1Biophysics & Structural Genomics Division, Saha Institute of Nuclear Physics, 1/AF Bidhannagar, Kolkata 700064, India.

International Journal of Cardiology. Heart & Vasculature
|August 9, 2017
PubMed

Insights

Genetic variations in the LMNA gene are linked to dilated cardiomyopathy (DCM) in Indian populations. This study identified eight LMNA single nucleotide polymorphisms (SNPs) associated with DCM, highlighting genetic factors in heart disease.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genomic Medicine

Background:

  • Dilated cardiomyopathy (DCM) is a prevalent global heart condition characterized by enlarged ventricles and impaired heart function.
  • Mutations in the LMNA gene are known causes of DCM, but specific single nucleotide polymorphisms (SNPs) and their association with DCM require further documentation.

Purpose of the Study:

  • To investigate the association between LMNA gene single nucleotide polymorphisms (SNPs) and idiopathic DCM in patients from South Eastern India.
  • To identify specific LMNA SNPs linked to the pathogenesis of DCM in this population.

Main Methods:

  • A case study involving patients with idiopathic DCM and conduction defects from South Eastern India.
  • Next-generation sequencing was employed to analyze the exons of the LMNA gene from patient genomic DNA.

Main Results:

  • Eight distinct LMNA SNPs were identified and linked to idiopathic DCM: rs121117552, rs538089, rs505058, rs4641, rs646840, rs534807, rs80356803, and rs7339.
  • These associated SNPs are distributed across the LMNA gene, with a notable concentration in the region encoding the central rod domain of lamin A/C.

Conclusions:

  • The identified LMNA SNPs, while previously associated with other disorders, are implicated in DCM pathogenesis in the studied Indian population.
  • Genetic variations within the LMNA gene represent a significant underlying cause for DCM development.
Abstract

Keywords:
Dilated CardiomyopathyEchocardiographyLMNASingle Nucleotide Polymorphism

More Related Videos

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.9K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

13.6K

Related Concept Videos

Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
649
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
555
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
18.7K
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
676
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
15.9K
Cardiomyopathy V: Interprofessional Care01:29

Cardiomyopathy V: Interprofessional Care

Managing cardiomyopathy involves addressing underlying or precipitating causes, treating heart failure with medications, and implementing dietary changes and a balanced exercise and rest regimen.Lifestyle ModificationsCardiomyopathy patients should adopt a low-sodium diet to reduce fluid retention and manage heart failure. A personalized exercise and rest plan helps maintain physical fitness without overstraining the heart. Avoiding alcohol and tobacco is essential to prevent further damage to...
520