Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Bone Disorders

Bone Disorders

Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
Bone deposition is also affected by the levels of sex hormones like estrogen and testosterone that promote osteoblast activity and bone matrix synthesis. When the level of these hormones decreases due to aging, it causes a reduction in bone deposition. As a result, bone resorption by osteoclasts...

Fibril-associated Collagen

Fibril-associated Collagen

Fibril-associated collagens are a type of collagens present in the extracellular matrix with interrupted triple helices or FACIT (Fibril-associated collagens interrupted triple-helices). FACIT help connect and attach the collagen fibrils with each other as well as with other proteins of the extracellular matrix.
For example, the type II collagen fibrils in cartilage have covalently bound type IX fibril-associated collagens at regular intervals. Other types of fibril-associated collagens are...

Bone as Supporting Connective Tissue

Bone as Supporting Connective Tissue

Bone tissue forms the internal skeleton of vertebrate animals, providing structure to the body.
Bone Matrix
Bone, or osseous tissue, is a connective tissue that has a large amount of two different types of matrix material. The organic matrix is similar to the matrix material found in other connective tissues, including some amount of collagen and elastic fibers. This gives strength and flexibility to the tissue. The inorganic matrix consists of mineral salts— mostly calcium salts— that give the...

Bone Remodeling and Repair

Bone Remodeling and Repair

Osteoclasts are cells responsible for bone resorption and remodeling. They originate from hematopoietic progenitor cells present in the bone marrow. Numerous progenitor cells fuse to form multinucleated cells, each with 10-20 nuclei. A single osteoclast has a diameter of 150 to 200 µM. These cells have ruffled borders that break down the underlying bone tissue and release minerals such as calcium into the blood in bone resorption. Osteoclasts cling to bones with their ruffled edges during bone...

Fractures: Bone Repair

Fractures: Bone Repair

Treatment for a fracture is based on the type of break, the bone affected, and the patient's age.
Minor fractures with no bone displacement are treated by immobilizing the fractured bone using a cast or splint. However, in the case of fractures with displaced bones, the broken bones are repositioned before immobilization to ensure successful healing without deformation and loss of function. The realignment of fractured bone ends is performed through a process called reduction. If the procedure...

Rheumatic Heart Disease I: Introduction

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...

You might also read

Related Articles

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

Sort by

Same author

High-intensity immunosuppression versus modern standard care in poor-prognosis diffuse cutaneous systemic sclerosis: A propensity-matched study.

Journal of autoimmunity·2026

Same author

[Proposals from the French National Society of Internal Medicine on care pathways for patients with medical emergencies].

La Revue de medecine interne·2026

Same author

Adults With Acid Sphingomyelinase Deficiency Have Sustained Improvements in Clinical Outcomes With up to 5 Years of Olipudase Alfa Enzyme Replacement Therapy: ASCEND Trial Final Results.

Journal of inherited metabolic disease·2026

Same author

Treatment-related benefit and satisfaction in patients with Fabry disease in France: insight into patients' expectations and preferences from the prospective, non-interventional SATIS-Fab study.

Orphanet journal of rare diseases·2026

Same author

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases.

Orphanet journal of rare diseases·2026

Same author

A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases.

Journal of pharmaceutical analysis·2025

Search research articles

Related Experiment Video

Updated: Jun 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Bone and joint involvement in Fabry disease.

K Sacre¹, Olivier Lidove, B Giroux Leprieur

¹Department of Internal Medicine, Bichat-Claude Bernard Hospital, APHP, University Paris-7, Paris Cedex 18, France.

Scandinavian Journal of Rheumatology

|December 17, 2009

Summary

Fabry disease (FD), a genetic disorder, often leads to bone density loss (osteoporosis) and joint issues in affected individuals. This study highlights skeletal complications in four family members with classic FD, emphasizing the need for further research.

More Related Videos

Creation of a Knee Joint-on-a-Chip for Modeling Joint Diseases and Testing Drugs

Creation of a Knee Joint-on-a-Chip for Modeling Joint Diseases and Testing Drugs

Published on: January 27, 2023

Engineering Tendon Assembloids to Probe Cellular Crosstalk in Disease and Repair

Engineering Tendon Assembloids to Probe Cellular Crosstalk in Disease and Repair

Published on: March 22, 2024

Related Experiment Videos

Last Updated: Jun 17, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

Published on: December 20, 2017

Creation of a Knee Joint-on-a-Chip for Modeling Joint Diseases and Testing Drugs

Creation of a Knee Joint-on-a-Chip for Modeling Joint Diseases and Testing Drugs

Published on: January 27, 2023

Engineering Tendon Assembloids to Probe Cellular Crosstalk in Disease and Repair

Engineering Tendon Assembloids to Probe Cellular Crosstalk in Disease and Repair

Published on: March 22, 2024

Area of Science:

Genetics
Metabolic Disorders
Skeletal Biology

Background:

Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficient alpha-galactosidase A activity.
While FD affects multiple organ systems, its impact on skeletal health remains under-documented.
Understanding the full spectrum of FD manifestations is crucial for comprehensive patient care.

Observation:

Four related patients (3 males, 1 premenopausal female) with classic FD phenotype were studied.
All patients exhibited osteoporosis or osteopenia via dual-energy X-ray absorptiometry.
One patient presented with neuropathic joint disease and osteonecrosis.

Findings:

Skeletal involvement, including osteoporosis and osteopenia, is prevalent in individuals with Fabry disease.
The study identified osteoporotic fractures and advanced joint complications in FD patients.
Specific mechanisms contributing to bone and joint pathology in FD were explored.

Implications:

These findings underscore the significance of skeletal health monitoring in Fabry disease management.
Further research into the pathogenesis of skeletal complications in FD is warranted.
Integrating skeletal assessments may improve the holistic care of patients with Fabry disease.