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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,...
Lysosomes01:31

Lysosomes

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,...
Lysosomes01:31

Lysosomes

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,...
Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
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...

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[Lysosomal storage diseases--an overview].

Anna Kloska1, Anna Tylki-Szymańska, Grzegorz Wegrzyn

  • 1Katedra Biologii Molekularnej, Wydział Biologii, Uniwersytet Gdański, Gdańsk.

Postepy Biochemii
|September 15, 2011
PubMed
Summary

Lysosomal storage diseases (LSDs) are genetic metabolic disorders caused by protein deficiencies, leading to macromolecule buildup and cellular dysfunction. Understanding LSD pathomechanisms drives advancements in diagnostics and therapies.

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Context:

  • Lysosomal storage diseases (LSDs) encompass approximately 50 genetic metabolic disorders.
  • These conditions arise from deficiencies in proteins crucial for lysosomal function, including hydrolases, transporters, and enzyme activators.

Purpose:

  • To provide an overview of lysosomal storage diseases.
  • To highlight the role of biochemical, genetic, and molecular studies in understanding LSDs and developing treatments.

Summary:

  • Genetic defects lead to a lack or deficiency of specific lysosomal proteins.
  • This deficiency causes the accumulation of undegraded macromolecules within lysosomes, resulting in cellular, tissue, and organ dysfunction.
  • Most LSDs are autosomal recessive, with notable X-linked exceptions like Fabry and Hunter diseases.

Impact:

  • Advances in understanding LSD pathomechanisms are crucial for developing effective diagnostics and modern therapeutic strategies.
  • Biotechnological studies are vital for unraveling disease mechanisms and creating targeted treatments.
  • LSDs serve as key examples of how fundamental research translates into clinical applications.