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

Multiple Sclerosis l: Introduction

Multiple Sclerosis l: Introduction

Multiple sclerosis is a chronic autoimmune disease of the central nervous system (CNS) that affects the brain, spinal cord, and optic nerves. It is an inflammatory demyelinating disorder and a leading cause of neurological disability in young adults.EpidemiologyMS commonly begins between 20 and 40 years of age and is twice as common in women. Its exact cause remains unclear, but genetic susceptibility contributes, with higher risk in first-degree relatives and identical twins. A greater...

Animal Mitochondrial Genetics

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...

Mitochondrial Membranes

Mitochondrial Membranes

A single mitochondrion is a bean-shaped organelle enclosed by a double-membrane system. The outer membrane of mitochondria is smooth and contains many porins - the integral membrane transporters. Porins enable free diffusion of ions and small uncharged molecules through the outer mitochondrial membrane but limit the transport of molecules larger than 5000 Daltons. Further, the outer mitochondrial membrane forms a unique structure called membrane contact sites with other subcellular organelles,...

The Inner Mitochondrial Membrane

The Inner Mitochondrial Membrane

The inner mitochondrial membrane is the primary site of ATP synthesis. The inner membrane domain that forms a smooth layer adjacent to the outer membrane is called the inner boundary membrane. This domain contains membrane transporters that drive metabolites in and out of the mitochondria. In contrast, the inner membrane network that invaginates into the matrix space is called the cristae membrane. This domain accounts for principle mitochondrial function as it accommodates the protein...

You might also read

Related Articles

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

Sort by

Same author

Development and validation of a simple HPLC-MS/MS method for the quantification of methylmalonic acid in human serum without a derivatization step.

Biomedical chromatography : BMC·2023

Same author

SARS-CoV-2 rapid antigen testing in the healthcare sector: A clinical prediction model for identifying false negative results.

International journal of infectious diseases : IJID : official publication of the International Society for Infectious Diseases·2021

Same author

A new HPLC-MS/MS analytical method for quantification of tazobactam, piperacillin, and meropenem in human plasma.

Journal of separation science·2021

Same author

A new HPLC-MS/MS method for simultaneous determination of Cyclosporine A, Tacrolimus, Sirolimus and Everolimus for routine therapeutic drug monitoring.

Journal of chromatography. B, Analytical technologies in the biomedical and life sciences·2019

Same author

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

Orphanet journal of rare diseases·2018

Same author

Affection of the Respiratory Muscles in Combined Complex I and IV Deficiency.

The open neurology journal·2017

Search research articles

Related Experiment Video

Updated: May 25, 2026

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Mimicry between mitochondrial disorder and multiple sclerosis.

Josef Finsterer¹, Romana Höftberger, Claudia Stöllberger

¹Danube University Krems, Austria. fifigs1@yahoo.de

Metabolic Brain Disease

|February 8, 2012

Summary

Multiple sclerosis (MS) and mitochondrial disorders (MID) can be misdiagnosed. Early exclusion of MIDs is crucial before initiating MS treatments that could harm MID patients.

More Related Videos

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Related Experiment Videos

Last Updated: May 25, 2026

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models

Published on: June 30, 2023

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Comprehensive Autopsy Program for Individuals with Multiple Sclerosis

Published on: July 19, 2019

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Modeling Mitochondrial Disease Using Brain Organoids: A Focus on Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes

Published on: October 10, 2025

Area of Science:

Neurology
Genetics
Biochemistry

Background:

Multiple sclerosis (MS) and mitochondrial disorders (MID) share overlapping symptoms and diagnostic findings.
Distinguishing between MS and MID is critical for appropriate patient management.

Observation:

A 30-year-old female initially diagnosed with MS at 16 presented with progressive neurological decline.
The patient later developed symptoms including rhabdomyolysis, hypothyroidism, and ophthalmoparesis, suggestive of a metabolic disorder.
Diagnostic re-evaluation, prompted by her mother's MID diagnosis, revealed elevated lactate, axonal polyneuropathy, and specific muscle biopsy findings.

Findings:

The patient was ultimately diagnosed with a mitochondrial disorder (MID) due to deficiencies in respiratory chain complexes I and IV.
Cerebrospinal fluid (CSF) analysis and MRI findings initially suggested MS but can also be observed in MIDs.
Muscle biopsy showed myophagy, fat deposition, and type-II fiber predominance.

Implications:

Mitochondrial disorders (MIDs) should be considered in the differential diagnosis of suspected multiple sclerosis (MS), even with "inflammatory" CSF or suggestive MRI findings.
Prescribing potentially toxic MS treatments without excluding MID can lead to severe patient harm.
This case highlights the importance of comprehensive diagnostic workups to differentiate between MS and MIDs.