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Estudio molecular de la enfermedad ósea de paget

por USATEGUI MARTÍN, Ricardo

Libro
ISBN: 9788490125960

Paget's disease of bone (PDB) is defined as a focal and chronic skeletal disorder.
It occurs because osteoclasts increase in number, size and activity. Bone turnover is
accelerated; with an increase of bone resorption coupled to an excessive formation
generating a plexiform, vascularized and increased volume bone.
The most accepted model to explain the pathogenesis of the PDB is a
combination of environmental and genetic factors. The genetic conditioning explains individual susceptibility to develop the disease with the participation of potential
environmental factors involved.
As a result of our study we can conclude the existence of a polygenic component in the development of the disease; the most plausible candidate genes whose mutation
explain the origin of the disease are gene Sequestosome1 (SQSTM1), VAV3 gene,
GSTM1 gene, ATG2B gene, ATG16L1 gene and the ATG5 gene. Showing that the
alteration of the process of autophagy could play a crucial role in the development of Paget's disease of bone.


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Paget's disease of bone (PDB) is defined as a focal and chronic skeletal disorder.
It occurs because osteoclasts increase in number, size and activity. Bone turnover is
accelerated; with an increase of bone resorption coupled to an excessive formation
generating a plexiform, vascularized and increased volume bone.
The most accepted model to explain the pathogenesis of the PDB is a
combination of environmental and genetic factors. The genetic conditioning explains individual susceptibility to develop the disease with the participation of potential
environmental factors involved.
As a result of our study we can conclude the existence of a polygenic component in the development of the disease; the most plausible candidate genes whose mutation
explain the origin of the disease are gene Sequestosome1 (SQSTM1), VAV3 gene,
GSTM1 gene, ATG2B gene, ATG16L1 gene and the ATG5 gene. Showing that the
alteration of the process of autophagy could play a crucial role in the development of Paget's disease of bone.


  • Formato: PDF
  • Tamaño: 10.275 Kb.
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