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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Incomplete Dominance01:43

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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.
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Related Experiment Video

Updated: Dec 9, 2025

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents
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Genetic modifiers and phenotypic variability in neuromuscular disorders.

Magdalena Mroczek1, Maria Gabriela Sanchez2

  • 1John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK. m.mroczek888@gmail.com.

Journal of Applied Genetics
|September 12, 2020
PubMed
Summary

Genetic modifiers explain varying disease severity in neuromuscular disorders. Discovering these genetic variants and their metabolic pathways offers new therapeutic targets for rare diseases.

Keywords:
Genetic modifierMetabolic pathwayNeuromuscular disorders

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Area of Science:

  • Genetics
  • Neurology
  • Metabolic Pathways

Background:

  • Neuromuscular disorders (NMDs) exhibit significant phenotypic variability, even among patients with identical mutations.
  • Understanding the genetic basis of this variability is crucial for effective treatment strategies.
  • Autosomal, recessive, and X-linked inheritance patterns are common in NMDs.

Purpose of the Study:

  • To review genetic modifiers that influence phenotypic severity in neuromuscular disorders.
  • To explore the metabolic pathways associated with these genetic modifiers.
  • To highlight recent advances in the discovery of genetic modifiers for NMDs.

Main Methods:

  • Literature review focusing on genetic modifiers in neuromuscular disorders.
  • Analysis of omics technologies and computational algorithms for modifier discovery.
  • Examination of international consortia efforts in genetic research.

Main Results:

  • Genetic modifiers are variants in genes that modulate NMD phenotypes.
  • Proteins from genetic modifiers are involved in key metabolic processes like inflammation, growth, regeneration, ER metabolism, and cytoskeletal function.
  • Omics technologies and collaborative research accelerate the identification of genetic modifiers.

Conclusions:

  • Genetic modifiers are key to understanding phenotypic variability in neuromuscular disorders.
  • Identifying shared metabolic pathways involving genetic modifiers can guide the development of targeted therapies.
  • Further research into genetic modifiers is essential for advancing NMD treatment.