Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

4.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
4.7K
Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

5.5K
Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
5.5K
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

944
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
944
Lysosomes01:31

Lysosomes

26.7K
Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
26.7K
ATP Synthase: Mechanism01:48

ATP Synthase: Mechanism

17.5K
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased...
17.5K
Translocation of Proteins into the Mitochondria01:19

Translocation of Proteins into the Mitochondria

13.5K
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,...
13.5K

You might also read

Related Articles

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

Sort by
Same author

Systematic review on genetic polymorphisms associated with idiosyncratic drug-induced liver injury (iDILI): iDILInet as an interactive visualization tool.

Acta pharmaceutica Sinica. B·2026
Same author

NLRP3 haploinsufficiency unmasks a compensatory NLRP1-NLRP3 interaction that drives accelerated aging in mice.

Science advances·2026
Same author

Pathophysiology, biological models and new therapeutic approaches in β-Propeller Associated Neurodegeneration.

International review of cell and molecular biology·2026
Same author

Resistance to tumorigenesis in the african spiny mouse (Acomys) correlates with upregulation of multiple tumor suppressor genes.

Scientific reports·2026
Same author

Gut microbiota alterations in endometriosis: an observational study in a Spanish female cohort.

Biology of reproduction·2025
Same author

Fibromyalgia diagnosis from a multi-omics approach: a gut feeling.

Frontiers in microbiology·2025

Related Experiment Video

Updated: Feb 22, 2026

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes
10:25

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes

Published on: September 27, 2024

1.2K

Mitochondrial Dysfunction in Lysosomal Storage Disorders.

Mario de la Mata1, David Cotán2, Marina Villanueva-Paz3

  • 1Centro Andaluz de Biología del Desarrollo (CABD-CSIC-Universidad Pablo de Olavide), Sevilla 41013, Spain. mrdelamata@gmail.com.

Diseases (Basel, Switzerland)
|September 22, 2017
PubMed
Summary
This summary is machine-generated.

Lysosomal storage diseases (LSDs) cause cellular damage through accumulated waste and mitochondrial dysfunction. This review explores how impaired mitochondria contribute to neurodegeneration in LSDs.

Keywords:
Gaucher diseaselysosomal storage disordersmitochondrial dysfunction

More Related Videos

Author Spotlight: Decoding Mitochondrial Aging
08:48

Author Spotlight: Decoding Mitochondrial Aging

Published on: June 30, 2023

4.9K
Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry
08:19

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry

Published on: May 5, 2022

2.9K

Related Experiment Videos

Last Updated: Feb 22, 2026

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes
10:25

Dual-color Correlative Light and Electron Microscopy for the Visualization of Interactions between Mitochondria and Lysosomes

Published on: September 27, 2024

1.2K
Author Spotlight: Decoding Mitochondrial Aging
08:48

Author Spotlight: Decoding Mitochondrial Aging

Published on: June 30, 2023

4.9K
Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry
08:19

Assessing Mitochondrial Function in Sciatic Nerve by High-Resolution Respirometry

Published on: May 5, 2022

2.9K

Area of Science:

  • Biochemistry
  • Cell Biology
  • Genetics

Background:

  • Lysosomal storage diseases (LSDs) are rare inherited metabolic disorders.
  • Defective lysosomal hydrolases or transporters cause accumulation of undigested material.
  • This accumulation leads to impaired autophagy, mitochondrial dysfunction, inflammation, and apoptosis.

Purpose of the Study:

  • To review current knowledge on mitochondrial dysfunction in LSDs.
  • To explore the implications of mitochondrial dysfunction in LSD pathogenesis.
  • To highlight the role of mitochondrial dysfunction in neurodegeneration associated with LSDs.

Main Methods:

  • Literature review of studies on LSDs and mitochondrial dysfunction.
  • Analysis of cellular and animal models of LSDs.
  • Synthesis of findings on biochemical and morphological changes in mitochondria.

Main Results:

  • Mitochondrial dysfunction is a common feature in many LSDs.
  • Signs include altered morphology, reduced membrane potential, diminished ATP production, and increased reactive oxygen species (ROS).
  • Impaired autophagic flux can exacerbate mitochondrial dysfunction by preventing clearance of damaged mitochondria.

Conclusions:

  • Mitochondrial dysfunction is a significant contributor to the pathology of LSDs, particularly neurodegeneration.
  • Understanding these mechanisms is crucial for developing therapeutic strategies for LSDs.
  • Further research into the interplay between lysosomal and mitochondrial health is warranted.