Related Experiment Video

Updated: Apr 3, 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

4.4K

LMNA gene single nucleotide polymorphisms in dilated cardiomyopathy of Han children

Li-Jian Xie1, Ting-Ting Xiao1, Min Huang1

  • 1Shanghai Children's Hospital, Shanghai Jiaotong University Shanghai 200040, China.

International Journal of Clinical and Experimental Medicine
|September 18, 2015
PubMed

Insights

Single nucleotide polymorphisms (SNPs) in the LMNA gene may increase susceptibility to dilated cardiomyopathy (DCM) in Chinese children. This study identified three SNPs associated with DCM in the Han Chinese population.

Area of Science:

  • Genetics
  • Cardiology
  • Pediatrics

Background:

  • Dilated cardiomyopathy (DCM) is a significant cause of heart failure in children.
  • The LMNA gene encodes lamins, crucial structural proteins of the nuclear envelope, and mutations are known to cause various cardiomyopathies.
  • The genetic basis of DCM in the Chinese Han population requires further investigation.

Purpose of the Study:

  • To determine if mutations or variations in the LMNA gene are associated with DCM in Chinese Han children.
  • To identify specific single nucleotide polymorphisms (SNPs) within the LMNA gene linked to DCM susceptibility.

Main Methods:

  • DNA analysis of 78 DCM patients and 100 healthy controls from the Chinese Han population.
  • Polymerase chain reaction (PCR) amplification and sequencing of 12 exons and adjacent introns of the LMNA gene.
  • Statistical analysis (χ(2) test) to compare allele and genotype frequencies between DCM patients and controls.

Main Results:

  • No disease-causing mutations in the LMNA gene were identified in DCM patients.
  • Three novel nonsense single nucleotide polymorphisms (SNPs) were detected: c.1908C>T (rs4641) in exon 10, c.861C>T (rs5380) in exon 5, and c.1338C>T (rs5058) in exon 7.
  • Significantly higher frequencies of specific genotypes (TT, TC) and the C allele for rs4641, and TC genotypes for rs5380 and rs5058 were observed in DCM patients compared to controls (P<0.05).

Conclusions:

  • Single nucleotide polymorphisms (SNPs) in the LMNA gene, rather than disease-causing mutations, may be associated with an increased susceptibility to DCM in Chinese Han children.
  • These findings suggest a potential role for specific LMNA gene variants in the pathogenesis of pediatric DCM in this population.
Abstract

Keywords:
Dilated cardiomypathyLMNA genesingle nucleotide polymorphisms

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

35.0K
Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes08:56

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

882

Related Concept Videos

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...
718
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,...
769
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...
818
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,...
19.9K
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
830