Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Esophageal Achalasia01:27

Esophageal Achalasia

Esophageal achalasia is a chronic neurogenic disorder characterized by impaired relaxation of the lower esophageal sphincter (LES) and absent or ineffective peristalsis in the distal esophagus. This leads to a functional obstruction without a physical blockage, despite significant disruption of esophageal motility.EtiologyAchalasia is caused by degeneration of the myenteric (Auerbach's) plexus, specifically the loss of inhibitory ganglion cells that produce vasoactive intestinal peptide (VIP)...
Gastrointestinal Motility Disorders01:20

Gastrointestinal Motility Disorders

Gastrointestinal or GI motility disorders are characterized by irregular gastrointestinal tract movements, disrupting food transit from the mouth to the anus. They are caused by damage or dysfunction in gut muscles or nerves. These disorders can cause symptoms such as severe constipation, diarrhea, abdominal pain, and swallowing difficulties. Disorders can affect any segment of the GI tract and range widely in severity, from common conditions like GERD to life-threatening conditions like...
Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
Barrett Esophagus-II: Clinical Manifestations and Management01:21

Barrett Esophagus-II: Clinical Manifestations and Management

Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Esophageal Strictures-II: Clinical Features and Management01:26

Esophageal Strictures-II: Clinical Features and Management

Patients with esophageal strictures often experience a range of symptoms. Initially, they may have difficulty swallowing solid foods, which can progress to include liquids. Additional symptoms may involve chest pain or discomfort, regurgitating food and fluids, heartburn, unintentional weight loss, coughing or choking during meals, and hoarseness.
Healthcare providers should gather a comprehensive medical history and conduct a physical examination for diagnosis. If esophageal stricture is...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

SOPA and SIMPA: normalized single-sample integrated multiomics pathway analysis of tumor heterogeneity in solid cancers.

Briefings in bioinformatics·2026
Same author

Editorial: Interdisciplinarity in internal medicine from basic investigations to molecular analysis.

Frontiers in immunology·2026
Same author

Neoadjuvant Treatment Versus Upfront Surgery for Resectable Pancreatic Ductal Adenocarcinoma-A Systematic Review and Meta-Analysis of Randomized Controlled Trials.

Medicina (Kaunas, Lithuania)·2026
Same author

From dysbiosis to malignancy: decoding gut-driven pathways to clinical management in hepatocellular carcinoma.

Frontiers in cellular and infection microbiology·2026
Same author

Safety of Apixaban for Postoperative Venous Thromboembolism Prophylaxis After Bariatric Surgery: A Single-Centre Retrospective Cohort Study.

Obesity surgery·2026
Same author

Efficacy of Fibrin Sealants and Polyglycolic Acid Sheets in Reducing Postoperative Hemorrhage Following Gastric Endoscopic Submucosal Dissection: A Meta-analysis of Randomized and Observational Studies.

Journal of gastrointestinal cancer·2026

Related Experiment Video

Updated: May 31, 2026

Robotic Myotomy and Partial Fundoplication for Achalasia
11:19

Robotic Myotomy and Partial Fundoplication for Achalasia

Published on: August 11, 2023

The Genetic Background in Achalasia: A Systematic Review.

Miruna Oana Dita1, Alexandru Marius Padureanu2, Stefan Lucian Popa3

  • 1Faculty of Medicine, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania. mirunaditaoana@gmail.com.

Journal of Gastrointestinal and Liver Diseases : JGLD
|May 28, 2026
PubMed
Summary

Genetic factors contribute to achalasia, a complex esophageal motility disorder. Research highlights immune susceptibility, neurotransmission, and transcriptional dysregulation as key elements in its multifactorial genetic background.

More Related Videos

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia
09:46

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Published on: February 16, 2024

Use of the Scissor-Type Knife During the Peroral Endoscopy Myotomy Procedure for the Treatment of Achalasia
06:42

Use of the Scissor-Type Knife During the Peroral Endoscopy Myotomy Procedure for the Treatment of Achalasia

Published on: March 3, 2023

Related Experiment Videos

Last Updated: May 31, 2026

Robotic Myotomy and Partial Fundoplication for Achalasia
11:19

Robotic Myotomy and Partial Fundoplication for Achalasia

Published on: August 11, 2023

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia
09:46

Robotic Heller Myotomy for Advancements in Surgical Management of Achalasia

Published on: February 16, 2024

Use of the Scissor-Type Knife During the Peroral Endoscopy Myotomy Procedure for the Treatment of Achalasia
06:42

Use of the Scissor-Type Knife During the Peroral Endoscopy Myotomy Procedure for the Treatment of Achalasia

Published on: March 3, 2023

Area of Science:

  • Gastroenterology
  • Genetics
  • Immunology

Background:

  • The exact causes of achalasia are not fully understood.
  • Genetic predisposition is increasingly recognized as a factor in achalasia development.
  • Interactions between genetic, immune, and environmental factors are suspected.

Purpose of the Study:

  • To systematically review and synthesize evidence on the genetic basis of achalasia.
  • To evaluate data from candidate gene studies, genome-wide association studies, and syndromic achalasia research.
  • To identify genetic susceptibility factors and pathways involved in achalasia pathogenesis.

Main Methods:

  • Conducted a systematic literature review.
  • Included studies on genetic associations, familial aggregation, and syndromic achalasia.
  • Synthesized evidence to assess genetic factors and mechanistic pathways.

Main Results:

  • Analyzed 21 studies on achalasia genetics.
  • Identified a multifactorial genetic background for achalasia.
  • Found involvement of HLA-related immune susceptibility, immune regulatory gene polymorphisms, altered neurotransmission, and transcriptional dysregulation.

Conclusions:

  • Genetic factors in achalasia involve immune susceptibility, neurotransmission disruption, and transcriptional dysregulation.
  • These factors support an immune-mediated neurodegenerative mechanism for achalasia.
  • Integrating genetic data may enhance understanding, diagnosis, and treatment strategies for achalasia.