Publications by authors named "J J Rochford"
Objective: Obesity increases osteoarthritis (OA) risk due to adipose tissue dysfunction with associated metabolic syndrome and excess weight. Lipodystrophy syndromes exhibit systemic metabolic and inflammatory abnormalities similar to obesity without biomechanical overloading. Here, we used lipodystrophy mouse models to investigate the effects of systemic versus intra-articular adipose tissue dysfunction on the knee.
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- Lipodystrophy is a serious condition where individuals cannot maintain fat tissue, leading to severe metabolic issues like fatty liver and diabetes, with no current cure.
- Researchers are testing tissue-specific gene therapy using adeno-associated virus (AAV) vectors in mice with a lipodystrophy model to see if they can effectively target fat or liver tissue.
- The study found that AAV vectors aimed at fat tissue helped restore fat development and improve metabolic health, while liver-targeted treatments had limited success, highlighting a promising therapeutic direction.
Aims: Individuals with lipodystrophies typically suffer from metabolic disease linked to adipose tissue dysfunction including lipoatrophic diabetes. In the most severe forms of lipodystrophy, congenital generalised lipodystrophy, adipose tissue may be almost entirely absent. Better therapies for affected individuals are urgently needed.
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- About 25% of people worldwide have non-alcoholic fatty liver disease (NAFLD), but there are no specific medications to treat it currently.
- This study focused on the adiposity-associated receptor GPR75, mainly found in the brain, and its role in reducing fat accumulation in the liver.
- Mice lacking GPR75 were able to control their food intake better on a high-fat diet, which also correlated with human genetic data showing that certain GPR75 variants lower the risk of developing liver fat, highlighting its potential as a target for NAFLD therapy.
Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed.
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