Related Experiment Video

Updated: Jan 21, 2026

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease
04:22

Author Spotlight: Exploring Sex-Specific Glial Signatures and Therapeutic Leads for Alzheimer's Disease

Published on: May 20, 2024

1.3K

Identification of serum microRNAs as potential biomarkers in Pompe disease

Ana Carrasco-Rozas1, Esther Fernández-Simón1, Maria Cinta Lleixà1

  • 1Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.

Annals of Clinical and Translational Neurology
|July 30, 2019
PubMed
Abstract

Insights

Serum microRNA analysis in Adult Onset Pompe disease (AOPD) revealed elevated levels of three dystromirs (miR-1-3p, miR-133a-3p, miR-206). These may serve as novel biomarkers for monitoring AOPD progression.

Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • Adult Onset Pompe disease (AOPD) is a rare genetic disorder affecting muscle function.
  • Identifying reliable biomarkers for AOPD diagnosis and monitoring is crucial.

Purpose of the Study:

  • To investigate the serum microRNA profile in patients with AOPD.
  • To identify potential microRNA biomarkers for AOPD.

Main Methods:

  • Serum microRNA expression was analyzed using PCR panels and Real-Time PCR in AOPD patients and controls.
  • Skeletal muscle microRNA expression was also examined.
  • Correlations with clinical assessments including muscle function tests, spirometry, and MRI were performed.

Main Results:

  • Fourteen microRNAs showed differential expression in AOPD patient serum.
  • Three specific microRNAs (miR-1-3p, miR-133a-3p, miR-206), termed dystromirs, were significantly elevated in AOPD patients.
  • These dystromirs were also increased in muscle biopsies and correlated with muscle function.

Conclusions:

  • Elevated serum dystromir levels show potential as biomarkers for AOPD.
  • These findings may aid in the follow-up and management of AOPD patients.

More Related Videos

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

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

Published on: December 20, 2017

8.5K
Digital PCR for Quantifying Circulating MicroRNAs in Acute Myocardial Infarction and Cardiovascular Disease04:41

Digital PCR for Quantifying Circulating MicroRNAs in Acute Myocardial Infarction and Cardiovascular Disease

Published on: July 3, 2018

8.6K

Related Concept Videos

MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns—non-coding regions of a gene—or intergenic regions—stretches of DNA present between genes. Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After...
24.0K
MicroRNAs01:22

MicroRNAs

MicroRNA (miRNA) are short, regulatory RNA transcribed from introns (non-coding regions of a gene) or intergenic regions (stretches of DNA present between genes). Several processing steps are required to form biologically active, mature miRNA. The initial transcript, called primary miRNA (pri-mRNA), base-pairs with itself, forming a stem-loop structure. Within the nucleus, an endonuclease enzyme, called Drosha, shortens the stem-loop structure into hairpin-shaped pre-miRNA. After the pre-miRNA...
3.8K
Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance01:25

Drug Dosing in Renal Diseases: Measurement of Serum Creatinine Concentration and Clearance

In healthy individuals, serum creatinine levels remain stable due to a balance between its constant production—primarily from muscle metabolism—and renal excretion. Creatinine is freely filtered by the glomeruli, making it a valuable marker for estimating renal function. When the glomerular filtration rate (GFR) decreases, the kidneys can only eliminate less creatinine, causing serum levels to rise.Serum creatinine concentration is widely used to estimate creatinine clearance...
190
Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration01:28

Drug Dosing in Renal Diseases: Estimation of Glomerular Filtration Rate Based on Serum Creatinine Concentration

Glomerular filtration rate (GFR) can be estimated from serum creatinine using the modification of diet in renal disease (MDRD) formula or the chronic kidney disease–epidemiology collaboration (CKD–EPI) equation. Both methods are widely used in clinical practice to assess kidney function and guide treatment decisions.The MDRD equation does not require weight or height measurements and is normalized to the body surface area of 1.73 m², considered the average adult surface area.
197
Potential Energy00:52

Potential Energy

The energy stored by a structure and location of matter in space is called potential energy. For instance, raising a kettlebell changes its spatial location and increases its potential energy. Similarly, a stretched rubber band contains potential energy which, under certain conditions, can be converted into other forms of energy, such as kinetic energy.
Chemical bonds that form attractive forces between atoms also contain potential energy, called chemical energy. When a chemical reaction...
42.3K
Standard Electrode Potentials03:02

Standard Electrode Potentials

On comparing the reactivity of silver and lead, it is observed that the two ionic species, Ag+ (aq) and Pb2+ (aq), show a difference in their redox reactivity towards copper: the silver ion undergoes spontaneous reduction, while the lead ion does not. This relative redox activity can be easily quantified in electrochemical cells by a property called cell potential. This property is commonly known as cell voltage in electrochemistry, and it is a measure of the energy which accompanies the charge...
50.0K