Insights into Pathomechanisms and Treatment Development in Heritable Ectopic Mineralization Disorders: Summary of the

Related Experiment Video

Updated: Oct 23, 2026

Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis
07:00

Intra-iliac Artery Injection for Efficient and Selective Modeling of Microscopic Bone Metastasis

Published on: September 26, 2016

Jouni Uitto1, Qiaoli Li1, Koen van de Wetering1

  • 1Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College, and PXE International Center of Excellence in Research and Clinical Care, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.

The Journal of Investigative Dermatology
|March 26, 2017
PubMed

Insights

Pseudoxanthoma elasticum and related disorders involve ectopic mineralization due to low pyrophosphate. Research symposia focus on precision medicine for better diagnostics and treatments for these rare diseases.

Area of Science:

  • Genetics and rare diseases
  • Biochemistry of mineralization
  • Translational medicine

Background:

  • Pseudoxanthoma elasticum (PXE) is a key example of heritable ectopic mineralization disorders.
  • Phenotypic similarities exist between PXE, generalized arterial calcification of infancy, and CD73-deficient arterial calcification.
  • A reduced inorganic pyrophosphate/phosphate ratio is implicated in soft connective tissue mineralization in these conditions.

Purpose of the Study:

  • To summarize recent research progress in PXE and other ectopic mineralization disorders.
  • To highlight advances presented at the September 2016 PXE International research symposium.
  • To focus on translational aspects for precision medicine, diagnostics, and treatment development.

Main Methods:

  • Review of presentations from a research symposium on ectopic mineralization disorders.
  • Focus on research findings related to PXE and similar conditions.
  • Analysis of translational research towards clinical applications.

Main Results:

  • Progress in understanding the pathophysiology of PXE and related mineralization disorders was presented.
  • The role of the pyrophosphate/phosphate ratio in ectopic mineralization was discussed.
  • Advancements in diagnostic and therapeutic strategies were explored.

Conclusions:

  • Ectopic mineralization disorders share common pathways and research interests.
  • Precision medicine approaches hold promise for improving diagnostics and treatments.
  • Continued research and collaboration are crucial for addressing these intractable conditions.

More Related Videos

Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis14:55

Analysis of Minerals Produced by hFOB 1.19 and Saos-2 Cells Using Transmission Electron Microscopy with Energy Dispersive X-ray Microanalysis

Published on: June 24, 2018

Comprehensive Characterization of Tissue Mineralization in an Ex Vivo Model07:29

Comprehensive Characterization of Tissue Mineralization in an Ex Vivo Model

Published on: September 27, 2024

Related Concept Videos

Bone Remodeling01:40

Bone Remodeling

Bone remodeling is a continuous and balanced process of bone resorption by osteoclasts and bone formation by osteoblasts. In adults, it helps maintain bone mass and calcium homeostasis. While mechanical stress can stimulate turnover as part of the normal maintenance and reparative process, several hormones also regulate bone remodeling.
40.7K
Bone Disorders01:29

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...
5.8K
Essential Minerals for Bone Health01:31

Essential Minerals for Bone Health

The minerals contained in all of the food we consume are essential for our organ systems. However, certain essential minerals, such as calcium, phosphorus, magnesium, manganese, and fluoride, largely affect bone health.
Calcium and Phosphorus
Calcium is a critical component of bones, especially in the form of calcium phosphate and calcium carbonate. Since the body cannot make calcium, it must be obtained from the diet. However, calcium cannot be absorbed from the small intestine without...
6.9K
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
496
Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
307
Urinary Tract Calculi IV: Nutrition Therapy and Prevention01:27

Urinary Tract Calculi IV: Nutrition Therapy and Prevention

Management of renal calculi focuses on effective strategies like tailored nutrition and hydration therapy. Adjusting diet and fluid intake reduces stone formation and recurrence, making these interventions simple yet powerful in kidney stone prevention and management.Understanding Kidney StonesKidney stones form when calcium, oxalate, uric acid, and cystine concentrate and crystallize in urine. Factors contributing to their formation include genetic predisposition, certain medical conditions,...
492