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Mitral Stenosis I: Introduction01:22

Mitral Stenosis I: Introduction

Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Myocarditis I: Introduction01:21

Myocarditis I: Introduction

Myocarditis is inflammation of the myocardium, which is the muscular layer of the heart.EtiologyMyocarditis has a diverse etiology, including a wide range of infectious and non-infectious causes:Infectious CausesViral: Common viruses include Coxsackie A and B, adenovirus, parvovirus B19, enteroviruses, and influenza A.Bacterial: Examples include infections caused by Streptococcus, Staphylococcus, and Mycoplasma species.Rickettsial: Infections like Rocky Mountain spotted fever can result in...
Cytomegalovirus Disease01:27

Cytomegalovirus Disease

Cytomegalovirus (CMV) disease is caused by human cytomegalovirus, a double-stranded DNA virus of the Herpesviridae family. While primary CMV infection is often asymptomatic in immunocompetent individuals, the virus can cause severe disease in neonates and immunocompromised patients. CMV is the most common cause of congenital viral infection in the United States, and a major pathogen in solid organ and hematopoietic stem cell transplant recipients.CMV is transmitted via bodily fluids, sexual...
Mitral Valve Prolapse I: Introduction01:27

Mitral Valve Prolapse I: Introduction

IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...

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Related Experiment Video

Updated: May 11, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

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

Published on: October 10, 2025

[Miyake's disease].

Kazushige Tsunoda1

  • 1Laboratory of Visual Physiology, National Institute of Sensory Organs.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|May 2, 2013
PubMed
Summary
This summary is machine-generated.

Miyake's disease, or occult macular dystrophy (OMD), is a genetic condition causing vision loss with no visible eye abnormalities. Research identified dominant RP1L1 gene mutations as the cause of this progressive macular dystrophy.

Related Experiment Videos

Last Updated: May 11, 2026

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
08:56

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

Published on: October 10, 2025

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Context:

  • Miyake's disease (occult macular dystrophy, OMD) is a hereditary macular dystrophy.
  • Characterized by progressive visual acuity decrease with normal fundus and fluorescein angiograms.
  • Key diagnostic signs include normal full-field ERGs and abnormal focal macular ERGs.

Purpose:

  • To detail the discovery and characteristics of Miyake's disease (OMD).
  • To report the identification of the RP1L1 gene as causative for OMD.
  • To consolidate understanding of OMD's genetic basis and clinical presentation.

Summary:

  • Miyake's disease (OMD) involves hereditary macular degeneration with subtle fundus changes.
  • Research identified dominant mutations in the RP1L1 gene as the cause of OMD.
  • This gene is responsible for OMD in both Japanese and non-Japanese populations.

Impact:

  • Established RP1L1 gene mutations as the primary cause of Miyake's disease.
  • Provides a foundation for understanding the genetic mechanisms of macular dystrophies.
  • Facilitates improved diagnosis and potential future therapeutic strategies for OMD.