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Related Concept Videos

Proteoglycans01:05

Proteoglycans

Glycans, a class of complex heterogeneous molecules, can be covalently attached to proteins to form glycosylated proteins that regulate various physiological and pathological processes. Glycosylated proteins or glycoproteins comprise N-linked and O-linked oligosaccharides. O-glycosylation is the most common type of protein glycosylation. Here, glycans attach to the oxygen atom of the hydroxyl groups of Serine or Threonine residues. O-linked glycosylation occurs later in protein processing,...
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,...
Glycosaminoglycans01:23

Glycosaminoglycans

Glycosaminoglycans (GAGs), also known as mucopolysaccharides, are long and linear polymers comprising of specific repeating disaccharides - the amino sugar that can be N-acetylglucosamine or N-acetylgalactosamine, and a uronic acid that is usually glucuronic acid or iduronic acid.
GAGS are found in the extracellular matrix of vertebrates, invertebrates, and bacteria. Due to their polar nature they attract water, and serve as excellent lubricants or shock absorbers in an animal body.
Hyaluronic...
Glucose Transporters01:27

Glucose Transporters

Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
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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 Glycosylation01:25

Protein Glycosylation

Glycosylation, the most common post-translational modification for proteins, serves diverse functions. Adding sugars to proteins makes the proteins more resistant to proteolytic digestion. Glycosylated proteins can act as markers and receptors to promote cell-cell adhesion. Additionally, they have many essential quality control functions in the cell, such as correct protein folding and facilitating transport of misfolded proteins to the cytosol, which can be degraded.
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Sarcoglycanopathies.

Janbernd Kirschner1, Hanns Lochmüller

  • 1Division of Neuropediatrics and Muscle Disorders, University Medical Center Freiburg, Freiburg, Germany. janbernd.kirschner@uniklinik-freiburg.de

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Sarcoglycanopathies are a group of muscular dystrophies caused by mutations in sarcoglycan genes. Current treatments are symptomatic, focusing on managing disease manifestations, as gene therapies are not yet in clinical practice.

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Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Sarcoglycanopathies encompass four autosomal recessive limb-girdle muscular dystrophies (LGMD2C-F).
  • These are caused by mutations in the alpha, beta, gamma, and delta sarcoglycan genes.
  • Sarcoglycans form a crucial tetrameric complex within dystrophin-associated proteins.

Purpose of the Study:

  • To review the genetic basis and clinical presentation of sarcoglycanopathies.
  • To discuss diagnostic approaches including muscle biopsy and genetic testing.
  • To explore current therapeutic strategies and the status of experimental treatments like gene transfer.

Main Methods:

  • Review of existing literature on sarcoglycanopathies.
  • Analysis of clinical phenotypes and diagnostic criteria.
  • Examination of animal models and therapeutic strategies.

Main Results:

  • Sarcoglycanopathies present with slowly progressive proximal muscle weakness, often starting in childhood.
  • Diagnosis relies on muscle biopsy showing dystrophic changes and sarcoglycan deficiency, confirmed by genetic testing.
  • While animal models exist for studying sarcoglycan function and developing therapies, clinical application is pending.

Conclusions:

  • Sarcoglycanopathies are a distinct subgroup of LGMD with characteristic genetic causes and clinical features.
  • Current management is symptomatic, addressing motor, respiratory, and cardiac issues.
  • Further research and development are needed for effective gene-based therapies to enter clinical practice.