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Related Concept Videos

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Medical History
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
Chronic Pancreatitis I: Introduction01:24

Chronic Pancreatitis I: Introduction

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Chronic Pancreatitis I: Introduction01:25

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Assessment:
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Related Experiment Video

Updated: Jul 17, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

A Multi-Center Integrative Cohort Characterizing the Genetic, Clinical, and Transcriptomic Features of ACP5

Shiling Zhong1, Shuangyue Ma2, Yasmine El Chazli3

  • 1Department of Pediatric Rheumatology and Immunology, Women and Children's Hospital of Ningbo University, Ningbo Key Laboratory of Prevention and Treatment of Embryo-originated Diseases, Ningbo, China.

Arthritis & Rheumatology (Hoboken, N.J.)
|July 16, 2026
PubMed
Summary

Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic disorder. This study expands its genetic and clinical understanding, revealing an upregulated interferon signature and identifying monocytes as key inflammatory cells.

Related Experiment Videos

Last Updated: Jul 17, 2026

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format
05:58

Digital Polymerase Chain Reaction Assay for the Genetic Variation in a Sporadic Familial Adenomatous Polyposis Patient Using the Chip-in-a-tube Format

Published on: August 20, 2018

Area of Science:

  • Genetics and immunology
  • Rare disease research
  • Molecular biology

Background:

  • Spondyloenchondrodysplasia with immune dysregulation (SPENCDI) is a rare genetic disorder.
  • It is caused by biallelic mutations in the ACP5 gene.
  • Understanding its genetic and clinical spectrum is crucial for diagnosis and treatment.

Purpose of the Study:

  • To systematically evaluate the genetic landscape, clinical features, treatment outcomes, and transcriptomic alterations in SPENCDI.
  • To identify novel pathogenic variants in ACP5.
  • To elucidate the underlying immune dysregulation mechanisms.

Main Methods:

  • Whole-exome sequencing for genetic diagnosis.
  • Measurement of tartrate-resistant acid phosphatase (TRAP) activity.
  • Integration of existing and new patient data for comprehensive analysis.
  • Bulk and single-cell RNA sequencing to investigate immune signaling pathways.

Main Results:

  • Identified 17 patients with ACP5 deficiency, including five novel pathogenic variants.
  • Predominant clinical features include skeletal dysplasia and short stature.
  • Revealed elevated inflammatory activity with enrichment of NF-κB, MAPK, and cell death pathways, and upregulation of type I interferon genes in monocytes.
  • Observed enhanced IFN-γ signaling between monocytes and Natural Killer cells.
  • Prednisolone and Azathioprine showed efficacy, while JAK inhibitors provided partial response.

Conclusions:

  • Expanded the known genetic and clinical spectrum of ACP5 deficiency.
  • Identified an upregulated interferon signature and highlighted monocytes as a primary source of inflammation.
  • Provided valuable insights for improving SPENCDI diagnosis and treatment strategies.