Related Experiment Video

Updated: Aug 19, 2026

Using Live Cell STED Imaging to Visualize Mitochondrial Inner Membrane Ultrastructure in Neuronal Cell Models
08:48

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

Published on: June 30, 2023

White matter involvement in mitochondrial diseases

Tally Lerman-Sagie1, Esther Leshinsky-Silver, Nathan Watemberg

  • 1The Mitochondrial Disease Clinic, Metabolic-Neurogenetic Service, Wolfson Medical Center, Pediatric Neurology Unit, Holon, Israel. asagie@post.tau.ac.il

Molecular Genetics and Metabolism
|January 27, 2005
PubMed

Insights

White matter abnormalities are common in mitochondrial disorders, affecting both brain and cerebellum. Prompt mitochondrial evaluation is crucial for complex neurological cases with multisystem involvement.

Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • White matter involvement is increasingly recognized in mitochondrial disorders.
  • It is a key feature of classical mitochondrial syndromes linked to mitochondrial DNA alterations.
  • Autosomal disorders involving nuclear DNA mutations also manifest white matter changes.

Purpose of the Study:

  • To highlight the significance of white matter involvement in mitochondrial diseases.
  • To outline characteristic MRI findings suggestive of mitochondrial disorders.
  • To emphasize the need for mitochondrial evaluation in specific clinical contexts.

Main Methods:

  • Review of literature on white matter involvement in mitochondrial disorders.
  • Analysis of characteristic Magnetic Resonance Imaging (MRI) findings.
  • Correlation of clinical presentation with neuroimaging findings.

Main Results:

  • Common MRI findings include leukoencephalopathy, cyst-like lesions, and basal ganglia involvement.
  • White matter lesions can be disproportionate to clinical symptoms.
  • Multisystem involvement and early-onset neurodegeneration are frequent.

Conclusions:

  • White matter abnormalities are a hallmark of many mitochondrial diseases.
  • Specific MRI patterns can suggest a mitochondrial etiology.
  • Leukoencephalopathy with complex neurological and systemic symptoms warrants comprehensive mitochondrial investigation.

More Related Videos

Methods for In situ Quantification of Mitochondrial Morphology in Muscle and Terminal Schwann Cells of Mice08:13

Methods for In situ Quantification of Mitochondrial Morphology in Muscle and Terminal Schwann Cells of Mice

Published on: April 10, 2026

Histological Examination of Mitochondrial Morphology in a Parkinson's Disease Model06:07

Histological Examination of Mitochondrial Morphology in a Parkinson's Disease Model

Published on: June 23, 2023

Related Concept Videos

Mitochondrial Membranes01:45

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 Membrane01:28

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...
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
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...
Mitochondria01:37

Mitochondria

Mitochondria are eukaryotic cellular organelles that are known to produce energy through a process called oxidative phosphorylation. Besides their primary function, mitochondria are involved in various cellular processes, including cell growth, differentiation, signaling, metabolism, and senescence. Age-related changes cause a decline in mitochondrial quality and integrity due to increased mitochondrial mutations and oxidative damage. Thus, aging can severely impact mitochondrial functions,...