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

Alternative RNA Splicing

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...

You might also read

Related Articles

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

Sort by

Same author

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.

International journal of molecular sciences·2026

Same author

Twenty-Four-Hour Mean Arterial Pressure and Pulse Pressure Are Associated with Hospitalization Duration at Delivery in Pregnant Women Referred for Cardiovascular Risk Assessment.

Journal of clinical medicine·2026

Same author

Oral nanoparticle-encapsulated enzyme replacement therapy for mucopolysaccharidosis type I (MPS-I): a proof of concept study.

Drug delivery and translational research·2026

Same author

Analysis of inflammatory markers in patients with abnormal circadian rhythm of blood pressure.

Archives of medical science : AMS·2026

Same author

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria.

MedComm·2026

Same author

Prognostic value of hyperuricaemia for cardiovascular events in primary care: sex-specific analysis from the IBERICAN cohort.

European journal of preventive cardiology·2026

Search research articles

Related Experiment Video

Updated: May 13, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Disrupted synaptic gene expression in Fabry disease: Findings from RNA sequencing.

Laura López-Valverde¹, María E Vázquez-Mosquera¹, Cristóbal Colón-Mejeras¹

¹Unit of Diagnosis and Treatment of Congenital Metabolic Diseases, RICORS-SAMID, CIBERER, University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain; Health Research Institute of Santiago de Compostela (IDIS), University Clinical Hospital of Santiago de Compostela, Choupana s/n, 15706 Santiago de Compostela, A Coruña, Spain.

Neurobiology of Disease

|April 15, 2025

Summary

Fabry disease (FD), a lysosomal storage disorder, involves synaptic dysfunction. RNA sequencing revealed altered gene expression in FD patients, suggesting lipid raft involvement in disease pathology.

Keywords:

Blood Fabry disease Ionotropic receptors Lipid rafts Neurotransmitter receptors RNA-seq Synaptic function

More Related Videos

Purification of Transcripts and Metabolites from Drosophila Heads

Purification of Transcripts and Metabolites from Drosophila Heads

Published on: March 15, 2013

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Related Experiment Videos

Last Updated: May 13, 2025

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Dissecting Cell-Autonomous Function of Fragile X Mental Retardation Protein in an Auditory Circuit by In Ovo Electroporation

Published on: July 6, 2022

Purification of Transcripts and Metabolites from Drosophila Heads

Purification of Transcripts and Metabolites from Drosophila Heads

Published on: March 15, 2013

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Area of Science:

Genetics
Neuroscience
Rare Diseases

Background:

Fabry disease (FD) is an X-linked lysosomal storage disorder due to α-galactosidase A deficiency.
Glycosphingolipid accumulation in FD causes progressive damage to kidneys, heart, and nervous system.
Early diagnosis and understanding pathophysiology are crucial for managing FD.

Purpose of the Study:

To identify gene expression patterns in FD patients using RNA sequencing.
To investigate secondary cellular pathways affected by lysosomal dysfunction in FD.
To explore the role of synaptic function and lipid rafts in FD pathogenesis.

Main Methods:

International, multicenter, cross-sectional study.
RNA sequencing (RNA-seq) analysis of blood samples from 50 FD patients and 50 controls.
Functional enrichment analysis of differentially expressed genes.

Main Results:

Over 400 differentially expressed genes identified, with 207 protein-coding genes, mostly overexpressed in FD.
Functional analysis revealed significant alterations in synaptic function, including chemical synaptic transmission and membrane potential regulation.
Key genes involved in voltage-gated ion channels, neurotransmitter receptors, and lipid raft-associated proteins were identified.

Conclusions:

Lysosomal dysfunction in FD contributes to synaptic defects.
Lipid rafts may play a role in the pathogenesis of FD.
Further research into synaptic pathology is warranted for improved FD management.