Related Experiment Video

Updated: May 20, 2025

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies
06:53

A Rat Tibial Growth Plate Injury Model to Characterize Repair Mechanisms and Evaluate Growth Plate Regeneration Strategies

Published on: July 4, 2017

11.0K

Genetics and Epigenetics of Legg-Calvé-Perthes Disease

Bshara Sleem1, Jad Abdul Khalek1, Karim Kanbar1

  • 1Faculty of Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

JBJS Reviews
|March 25, 2025
PubMed

Insights

Legg-Calvé-Perthes disease (LCPD) involves genetic, epigenetic, and environmental factors causing femoral head avascular necrosis in children. Understanding these multifactorial causes is key to developing effective treatments and prevention strategies.

Area of Science:

  • Pediatric Orthopedics
  • Genetics
  • Epigenetics

Background:

  • Legg-Calvé-Perthes disease (LCPD) is a childhood hip condition characterized by avascular necrosis of the femoral head.
  • It affects children aged 4 to 10 years and has a multifactorial etiology.

Purpose of the Study:

  • To elucidate the complex interplay of genetic, epigenetic, and environmental factors contributing to LCPD pathogenesis.
  • To identify specific genetic mutations and epigenetic modifications involved in disease development.
  • To highlight environmental risk factors that amplify LCPD predisposition.

Main Methods:

  • Review of current literature on LCPD genetics, epigenetics, and environmental influences.
  • Analysis of specific gene mutations (e.g., COL2A1) and polymorphisms (e.g., IL6).
  • Examination of epigenetic mechanisms including DNA methylation and miRNA dysregulation.

Main Results:

  • Genetic factors like COL2A1 mutations and IL6 polymorphisms contribute to cartilage integrity and inflammation.
  • Epigenetic mechanisms modulate disease progression by linking genetic susceptibility and environmental factors.
  • Environmental factors such as maternal smoking, low birth weight, and socioeconomic status exacerbate LCPD risk.

Conclusions:

  • LCPD pathogenesis is multifactorial, involving a complex interaction between genetic predisposition, epigenetic modifications, and environmental exposures.
  • Future research should focus on genetic screening and epigenetic therapies (miRNA modulators, DNA methylation inhibitors).
  • Preventive strategies including improved prenatal care and reduced smoke exposure are crucial for optimizing LCPD outcomes.

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.5K
Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering09:43

Databases to Efficiently Manage Medium Sized, Low Velocity, Multidimensional Data in Tissue Engineering

Published on: November 22, 2019

6.2K

Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
83.2K
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
33.0K
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
20.6K
Lethal Alleles02:41

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
13.9K
Epigenetic Regulation01:37

Epigenetic Regulation

Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
X-chromosome...
3.0K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
7.4K