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Prader-Willi and other syndromes associated with obesity and mental retardation
M Gunay-Aygun1, S B Cassidy, R D Nicholls
1Department of Genetics, Case Western Reserve University School of Medicine, University Hospitals of Cleveland, Ohio, USA.
Insights
Constitutional obesity and intellectual disability co-occur in rare genetic syndromes. Research is exploring genetic causes to understand obesity mechanisms in these conditions and the general population.
Area of Science:
- Genetics
- Endocrinology
- Neuroscience
Background:
- Constitutional obesity and intellectual disability are co-occurring features in several multiple congenital anomaly syndromes.
- Examples include Prader-Willi syndrome, Bardet-Biedl syndrome, and Cohen syndrome.
- Current understanding of obesity's pathophysiology in these syndromes is limited.
Purpose of the Study:
- To review clinical and molecular genetic findings of multiple congenital anomaly/mental retardation syndromes associated with intrinsic obesity.
- To delineate causative mechanisms and genetic abnormalities contributing to obesity in these syndromes.
- To inform understanding of appetite, satiety, and obesity mechanisms in the general population.
Main Methods:
- Literature review of clinical and molecular genetic studies.
- Analysis of known chromosomal locations and ongoing gene identification efforts.
- Synthesis of current knowledge on associated syndromes and their genetic underpinnings.
Main Results:
- Multiple congenital anomaly/mental retardation syndromes frequently exhibit constitutional obesity.
- Hypothalamic-pituitary axis abnormalities are implicated in some cases, but causative mechanisms remain unclear for most.
- Ongoing research focuses on identifying causative genes and understanding their role in appetite regulation.
Conclusions:
- Identifying genes responsible for these syndromes is crucial for understanding obesity.
- Further research into gene functions will illuminate appetite and satiety regulation.
- This knowledge can provide insights into obesity mechanisms in the broader population.
Abstract:
Constitutional obesity and mental retardation cooccur in several multiple congenital anomaly syndromes, including Prader-Willi syndrome, Bardet-Biedl syndrome, Cohen syndrome, Albright hereditary osteodystrophy, and Borjeson-Forssman-Lehmann syndrome as well as some rarer disorders. Although hypothalamic-pituitary axis abnormalities are thought to be a possible causative mechanism in some of these disorders, current knowledge is insufficient to explain the pathophysiologic mechanism of obesity in most multiple congenital anomaly/mental retardation syndromes. The chromosomal location of many of these syndromes is known, and studies are ongoing to identify the causative genes. Further delineation of the functions of the underlying genes will likely be instructive regarding mechanisms of appetite, satiety, and obesity in the general population. This review details current knowledge of the clinical and molecular genetic findings of multiple congenital anomaly/mental retardation syndromes associated with intrinsic obesity in an effort to delineate causative mechanisms and genetic abnormalities contributing to obesity.