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Related Concept Videos

Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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Role of Proteins in the Human Body01:28

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Proteins are the building block of life. They are also  the most abundant macromolecules with as many diverse roles in the body. They are part of many structural components that provide unique shapes and structures to animal cells, tissues, and organs. In addition, they also act as biological catalysts and carry out several anabolic and catabolic reactions. Notably, some proteins are chemical messengers and regulate many critical processes, such as metabolism, growth, and development. They...
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Aging and its effect on bone remodeling is the most common cause of bone disorders. In young and healthy people, bone deposition and resorption happen at an equal rate to maintain optimal bone health.
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Disorders of erythrocytes, or red blood cells (RBCs), include a range of conditions affecting their number, shape, or function.
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Disorders of Leukocytes01:27

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Leukocyte disorders can lead to either leukopenia, characterized by an abnormally low leukocyte count, or leukocytosis, marked by a very high leukocyte number.
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ADAMTS proteins in human disorders.

Timothy J Mead1, Suneel S Apte1

  • 1Department of Biomedical Engineering, Cleveland Clinic Lerner Research Institute, Cleveland, OH 44195, United States.

Matrix Biology : Journal of the International Society for Matrix Biology
|June 10, 2018
PubMed
Summary

ADAMTS proteins are crucial for human health, involved in both inherited and acquired diseases. Understanding their roles offers new therapeutic avenues for conditions like osteoarthritis and cardiovascular disease.

Keywords:
AtherosclerosisExtracellular matrixGenome-wide association studies (GWAS)MetalloproteaseOsteoarthritisProtease

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Area of Science:

  • Biochemistry
  • Genetics
  • Molecular Biology

Background:

  • ADAMTS proteins are a superfamily of 26 secreted molecules with distinct protease and regulatory functions.
  • They play critical roles in extracellular matrix (ECM) assembly and biological pathways.
  • Evolutionary conservation suggests vital physiological and embryologic roles in humans.

Purpose of the Study:

  • To review inherited and acquired human disorders involving ADAMTS proteins.
  • To discuss the known and potential connections of ADAMTS proteins to various human diseases.
  • To explore therapeutic prospects related to ADAMTS proteins.

Main Methods:

  • Review of literature on ADAMTS protein functions and associated human disorders.
  • Analysis of genetic mutations and autoantibody involvement in diseases.
  • Examination of phenotypes in genetically engineered mouse models.
  • Consideration of genome-wide association studies (GWAS) findings.

Main Results:

  • Mutations in ADAMTS2, 3, 10, 13, 17, 20 and ADAMTSL2, 4 cause Mendelian disorders and birth defects.
  • ADAMTS5 is implicated in osteoarthritis pathogenesis by degrading aggrecan.
  • ADAMTS7 is linked to coronary artery disease and atherosclerosis.
  • Autoantibodies to ADAMTS13 cause thrombotic thrombocytopenic purpura.

Conclusions:

  • ADAMTS proteins are integral to numerous inherited and acquired human diseases.
  • Further research into ADAMTS protein functions can lead to novel therapeutic strategies.
  • Targeting ADAMTS proteins holds promise for treating conditions like osteoarthritis, cardiovascular disease, and coagulopathies.