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Related Concept Videos

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,...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
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...
Smooth Endoplasmic Reticulum01:21

Smooth Endoplasmic Reticulum

Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Notch Signaling Pathway03:14

Notch Signaling Pathway

The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not until 1985...
Translation01:31

Translation

Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life

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Niemann-Pick diseases.

Marie T Vanier1

  • 1INSERM, U820, Université de Lyon, Faculté de Médecine Lyon-Est, and Laboratoire de Neurobiologie Gillet-Mérieux, Hopitaux Est, Lyon, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary

Niemann-Pick disease is classified into ASM-deficient NPD and NP-C, both lysosomal lipid storage disorders. Updates cover diagnosis, clinical features, and emerging therapies for these rare genetic conditions.

Area of Science:

  • Genetics and rare diseases
  • Lysosomal storage disorders
  • Neurodegenerative diseases

Background:

  • Niemann-Pick disease (NPD) encompasses ASM-deficient NPD and NP-C, both autosomal recessive lysosomal lipid storage disorders.
  • ASM-deficient NPD stems from SMPD1 gene mutations (Types A, B, and intermediate).
  • NP-C arises from NPC1 or NPC2 gene mutations, including Type D, presenting with visceral or neurovisceral symptoms.

Purpose of the Study:

  • To provide an updated overview of Niemann-Pick disease classifications and clinical knowledge.
  • To highlight diagnostic strategies, including laboratory and prenatal diagnosis.
  • To discuss recent therapeutic advancements for both ASM-deficient NPD and NP-C.

Main Methods:

  • Review of recent surveys and large patient cohorts for updated clinical data.

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  • Analysis of diagnostic approaches for ASM-deficient NPD and NP-C.
  • Examination of current and emerging treatment strategies.

    • Main Results:

    • NP-C diagnosis is often delayed due to diverse clinical phenotypes; systemic precede neurological symptoms.
    • Common NP-C neurological signs include gaze palsy, ataxia, dysarthria, dysphagia, dementia, cataplexy, seizures, and dystonia.
    • Diagnostic and prenatal strategies are discussed, alongside progress in enzyme replacement therapy for Type B and neurological management for NP-C.

    Conclusions:

    • Niemann-Pick disease classification is refined, aiding in understanding disease progression.
    • Early and accurate diagnosis is crucial, especially for NP-C, given its wide phenotypic spectrum.
    • Therapeutic strategies are evolving, offering hope for improved patient outcomes in both forms of NPD.