Osteoarthritis (OA) is a multifactorial, inflammatory and disabling degenerative joints disorder characterized by degeneration of articular cartilage, intra-articular inflammation with synovitis, and changes in peri-articular and subchondral bone. OA involves the synovial tissues and articular cartilage, resulting in symptoms that cause a decrease in the quality of life and disability. The non-modifiable risk factors include gender and age whereas the modifiable risk factors include body mass index (BMI), injury/trauma, among others. Genetic studies have opened new opportunities in the definition and classification of OA etiopathogenesis describing a multifactorial disease that originates from both genetic and environmental factors. The main genes whose mutations are associated with the onset of OA encode proteins involved in some biological processes: bone morphogenesis, thyroid metabolism, apoptosis and mitochondrial damage, inflammation and the immune response and the Wnt signal cascade. To date, OA is incurable and most treatments, which include physiotherapy, life-style modifications, pharmacotherapy and surgery, aim to provide symptomatic relief rather than targeting the disease processes themselves. This work represents a multidisciplinary and translational medicine approach to study OA where clinical, radiographic, genetic and biochemical evaluation could contribute to better define the disease grading and progression for the development of new therapies.

CLINICAL, GENETICAL AND BIOMOLECULAR FINDING IN KNEE OSTEOARTHRITIS

CAMMARATA, FRANCESCO PAOLO
2015

Abstract

Osteoarthritis (OA) is a multifactorial, inflammatory and disabling degenerative joints disorder characterized by degeneration of articular cartilage, intra-articular inflammation with synovitis, and changes in peri-articular and subchondral bone. OA involves the synovial tissues and articular cartilage, resulting in symptoms that cause a decrease in the quality of life and disability. The non-modifiable risk factors include gender and age whereas the modifiable risk factors include body mass index (BMI), injury/trauma, among others. Genetic studies have opened new opportunities in the definition and classification of OA etiopathogenesis describing a multifactorial disease that originates from both genetic and environmental factors. The main genes whose mutations are associated with the onset of OA encode proteins involved in some biological processes: bone morphogenesis, thyroid metabolism, apoptosis and mitochondrial damage, inflammation and the immune response and the Wnt signal cascade. To date, OA is incurable and most treatments, which include physiotherapy, life-style modifications, pharmacotherapy and surgery, aim to provide symptomatic relief rather than targeting the disease processes themselves. This work represents a multidisciplinary and translational medicine approach to study OA where clinical, radiographic, genetic and biochemical evaluation could contribute to better define the disease grading and progression for the development of new therapies.
9-dic-2015
Inglese
Osteoarthritis; single nucleotide polymorphism; cytokines; grading
SONNINO, SANDRO
BONOMI, FRANCESCO
Università degli Studi di Milano
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14242/79026
Il codice NBN di questa tesi è URN:NBN:IT:UNIMI-79026