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Related Concept Videos

Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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...
Hepatic Encephalopathy01:29

Hepatic Encephalopathy

DefinitionHepatic encephalopathy is a reversible neurologic syndrome that results from advanced liver dysfunction or portosystemic shunting. It leads to disturbances in cognition, behavior, and motor function due to the brain’s exposure to gut-derived toxins that the liver fails to detoxify.EtiologyThis condition develops either in the setting of acute fulminant hepatitis or progressively during chronic liver disease, such as cirrhosis and portal hypertension. Portosystemic shunting—including...
Peroxisomes01:24

Peroxisomes

Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...
Peroxisomes and Mitochondria01:30

Peroxisomes and Mitochondria

Peroxisomes and mitochondria are two important oxygen-utilizing organelles in eukaryotic cells. Mitochondria carry out cellular respiration—the process that converts energy from food into ATP. Peroxisomes carry out a variety of functions, primarily breaking down different substances, such as fatty acids.
The peroxisome is a single membrane-bound cellular organelle that can perform several different functions, including lipid metabolism and chemical detoxification. The enzymes within peroxisomes...
Peroxisomes01:24

Peroxisomes

Peroxisomes are specialized organelles present in fungi, plant, and animal cells. It can vary in number, size, morphology, and activity depending on the type of tissue and the nutritional state of the cell. For example, cells with active lipid metabolism, such as adipocytes, neurons, and hepatocytes, have more peroxisomes than other cells in the body. Besides their primary role in breaking down complex organic molecules, peroxisomes can also synthesize specific macromolecules and participate in...
Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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,...

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Peroxisome Staining in Mammalian Cells Using Peroxisome-Specific Probes
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Peroxisomal leukoencephalopathy.

Bwee Tien Poll-The1, Marc Engelen

  • 1Department of Pediatric Neurology/Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. b.t.pollthe@amc.uva.nl

Seminars in Neurology
|March 17, 2012
PubMed
Summary
This summary is machine-generated.

Peroxisomal leukoencephalopathies, including Zellweger spectrum disorders, exhibit white matter abnormalities on brain MRI. Diagnosis involves biochemical assays and genetic testing, with symptomatic treatment, though stem cell transplant can be lifesaving for X-linked adrenoleukodystrophy.

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Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Background:

  • Peroxisomal leukoencephalopathies encompass Zellweger spectrum, rhizomelic chondrodysplasia punctata, and peroxisomal β-oxidation defects.
  • These disorders affect brain white matter, presenting diverse clinical and imaging findings.

Purpose of the Study:

  • To outline the clinical, diagnostic, and brain MRI characteristics of peroxisomal leukoencephalopathies.
  • To provide an overview of current therapeutic approaches.

Main Methods:

  • Review of clinical presentations and diagnostic strategies for peroxisomal leukoencephalopathies.
  • Analysis of brain MRI findings in various peroxisomal disorders.
  • Summary of biochemical assays, fibroblast studies, and DNA analysis for diagnosis.
  • Discussion of treatment options, including symptomatic care and hematopoietic stem cell transplantation.

Main Results:

  • Zellweger spectrum disorders show abnormal cerebral white matter and cerebellar involvement on MRI, often progressive.
  • Rhizomelic chondrodysplasia punctata presents with parietooccipital white matter abnormalities.
  • X-linked adrenoleukodystrophy and adrenomyeloneuropathy exhibit demyelinative lesions, similar to cerebral forms.
  • Biochemical assays and genetic testing confirm the diagnosis.

Conclusions:

  • Brain MRI is crucial for identifying white matter abnormalities characteristic of peroxisomal leukoencephalopathies.
  • Accurate diagnosis relies on a combination of clinical, biochemical, and genetic evaluations.
  • Treatment is primarily symptomatic, with hematopoietic stem cell transplant offering a potential cure for early-stage X-linked adrenoleukodystrophy.