Parental genomic imprinting in endocrinopathies

Polychronakos, Constantin; Kukuvitis, Asterios

doi:10.1530/eje.0.1470561

Cited by 25 publications

(13 citation statements)

References 66 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…More recent investigations suggest that the behavior of adult stages can be affected by imprinted genes (Isles and Wilkinson, 2000; Da- , 2005). In humans, aberrant imprinting is associated with diseases such as Beckwith-Wiedemann syndrome, the Prader-Willi syndrome and Silver-Russell syndrome (Polychronakos and Kukuvitis, 2002) and several forms of cancer as well (Feinberg, 2004).…”

Section: Identifi Cation and Functions Of Imprinted Genesmentioning

confidence: 99%

The continuing quest to comprehend genomic imprinting

Miyoshi¹,

Barton²,

Kaneda³

et al. 2006

Cytogenet Genome Res

View full text Add to dashboard Cite

The discovery of the phenomenon of genomic imprinting in mammals showed that the parental genomes are functionally non-equivalent. Considerable advances have occurred in the field over the past 20 years, which has resulted in the identification and functional analysis of a number of imprinted genes the expression of which is determined by their parental origin. These genes belong to many diverse categories and they have been shown to regulate growth, complex aspects of mammalian physiology and behavior. Many aspects of the mechanism of imprinting have also been elucidated. However, the reasons for the evolution of genomic imprinting remain enigmatic. Further research is needed to determine if there is any relationship between the apparently diverse functions of imprinted genes in mammals, and their role in human diseases. It also remains to be seen what common features exist amongst the diverse imprinting control elements. The mechanisms involved in the erasure and re-establishment of imprints should provide deeper insights into epigenetic mechanisms of wide general interest.

show abstract

Section: Identifi Cation and Functions Of Imprinted Genesmentioning

confidence: 99%

The continuing quest to comprehend genomic imprinting

Miyoshi¹,

Barton²,

Kaneda³

et al. 2006

Cytogenet Genome Res

View full text Add to dashboard Cite

show abstract

“…Imprinting, the preferential activation of genes inherited from either the mother or father, could be influenced by the prevailing intrauterine environment. Several genetic loci thought to be important in diabetes susceptibility are known to be imprinted [20]. Embryo transfer techniques are particularly well suited to the study of imprinting since both maternal and paternal genes can be experimentally controlled independent of the intrauterine environment.…”

Section: Discussionmentioning

confidence: 99%

Type�2 diabetes mellitus ? genes or intrauterine environment? An embryo transfer paradigm in rats

et al. 2004

View full text Add to dashboard Cite

show abstract

“…This work also allows investigation of the physiological effects of the various genotypes that have been associated with obesity risk. A number of genetic disorders have now been associated with obesity (Polychronakos and Kukuvitis, 2002;Haig and Wharton, 2003;Walter and Paulsen, 2003), as have a range of metabolic disorders (Reinehr, 2010;Repaci et al, 2011). However, the global obesity epidemic is clearly driven primarily by environmental factors rather than changes in the frequencies of these rare conditions, and changes in lifestyle, whatever their biological mechanism, must play the key role.…”

Section: Metabolic Approaches To Obesitymentioning

confidence: 99%

Obesity and energy balance: is the tail wagging the dog?

Wells¹,

Siervo²

2011

Eur J Clin Nutr

View full text Add to dashboard Cite

The scientific study of obesity has been dominated throughout the twentieth century by the concept of energy balance. This conceptual approach, based on fundamental thermodynamic principles, states that energy cannot be destroyed, and can only be gained, lost or stored by an organism. Its application in obesity research has emphasised excessive appetite (gluttony), or insufficient physical activity (sloth), as the primary determinants of excess weight gain, reflected in current guidelines for obesity prevention and treatment. This model cannot explain why weight accumulates persistently rather than reaching a plateau, and underplays the effect of variability in dietary constituents on energy and intermediary metabolism. An alternative model emphasises the capacity of fructose and fructose-derived sweeteners (sucrose, high-fructose corn syrup) to perturb cellular metabolism via modification of the adenosine monophosphate (AMP)/adenosine triphosphate (ATP) ratio, activation of AMP kinase and compensatory mechanisms, which favour adipose tissue accretion and increased appetite while depressing physical activity. This conceptual model implicates chronic hyperinsulinaemia in the presence of a paradoxical state of 'cellular starvation' as a key driver of the metabolic modifications inducing chronic weight gain. We combine evidence from in vitro and in vivo experiments to formulate a perspective on obesity aetiology that emphasises metabolic flexibility and dietary composition rather than energy balance. Using this model, we question the direction of causation of reported associations between obesity and sleep duration or childhood growth. Our perspective generates new hypotheses, which can be tested to improve our understanding of the current obesity epidemic, and to identify novel strategies for prevention or treatment. (2011) 65, 1173-1189; doi:10.1038/ejcn.2011.132; published online 20 July 2011 European Journal of Clinical NutritionKeywords: fructose; obesity; metabolism; energy balance; metabolic flexibility IntroductionThe scientific study of obesity has been dominated throughout the twentieth century by the concept of energy balance. This conceptual approach, based on fundamental thermodynamic principles, states that energy cannot be destroyed, and can only be gained, lost or stored by an organism (Hess, 1838;von Helmholtz, 1847). Its application in obesity research has emphasised excessive appetite, or insufficient physical activity, as the primary determinants of the modification of energy balance leading to excess weight gain (Prentice and Jebb, 1995), reflected in current protocols for obesity prevention and treatment. As we review below, this model cannot explain why weight accumulates persistently in individuals, rather than reaching a plateau when weight gain re-establishes the balance between energy intake and expenditure. The energy balance approach also underplays the effect of particular dietary components (for example, carbohydrates, amino-acids and fatty acids) on energy metabolism and fuel oxidati...

show abstract

Parental genomic imprinting in endocrinopathies

Cited by 25 publications

References 66 publications

The continuing quest to comprehend genomic imprinting

The continuing quest to comprehend genomic imprinting

Type�2 diabetes mellitus ? genes or intrauterine environment? An embryo transfer paradigm in rats

Obesity and energy balance: is the tail wagging the dog?

Contact Info

Product

Resources

About