Single-Gene Autosomal Recessive Disorders and Prader-Willi Syndrome: An Update for Food and Nutrition Professionals

Isaacs, Janet Sugarman; Zand, Dina J.

doi:10.1016/j.jada.2006.12.006

Cited by 5 publications

(3 citation statements)

References 42 publications

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“…Defective imprinting is one of causes for PWS disorders. In general, older mothers are more probable to cause UPD than younger mothers and this could be related to the fact that older eggs are likely to have more errors in the chromosome [37]. At present, the exact reason for alteration of chromosome 15 is not known.…”

Section: Classification Of Pwsmentioning

confidence: 98%

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

Basak

2022

Bioscience Reports

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Prader–Willi Syndrome (PWS) is a rare complex genetic disease that is associated with pathological disorders that include endocrine disruption, developmental, neurological, and physical problems as well as intellectual, and behavioral dysfunction. In early stage, PWS is characterized by respiratory distress, hypotonia, and poor sucking ability, causing feeding concern and poor weight gain. Additional features of the disease evolve over time. These include hyperphagia, obesity, developmental, cognitive delay, skin picking, high pain threshold, short stature, growth hormone deficiency, hypogonadism, strabismus, scoliosis, joint laxity, or hip dysplasia. The disease is associated with a shortened life expectancy. There is no cure for PWS, although interventions are available for symptoms management. PWS is caused by genetic defects in chromosome 15q11.2-q13, and categorized into three groups, namely Paternal deletion, Maternal uniparental disomy, and Imprinting defect. PWS is confirmed through genetic testing and DNA-methylation analysis. Studies revealed that at least two key proteins namely MAGEL-2 and NECDIN along with two proteases PCSK1 and PCSK2 are linked to PWS. Herein, we summarize our current understanding and knowledge about the role of these proteins and enzymes in various biological processes associated with PWS. The review also describes how loss and/or impairment of functional activity of these macromolecules can lead to hormonal disbalance by promoting degradation of secretory granules and via inhibition of proteolytic maturation of precursor-proteins. The present review will draw attention of researchers, scientists, and academicians engaged in PWS study and will help to identify potential targets and molecular pathways for PWS intervention and treatment.

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Section: Classification Of Pwsmentioning

confidence: 98%

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

Basak

2022

Bioscience Reports

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“…It has been repeatedly observed and reported that both children and adults with PWS have elevated levels of the appetitestimulating hormone, ghrelin, and decreased levels of the appetite-suppressing hormone, pancreatic polypeptide. 1,[7][8][9][10][11] This leads to constant feelings of hunger even after a meal is consumed. Unfortunately, even upon administration of somatostatin, which significantly suppresses ghrelin levels, there is no effect on appetite in those with PWS, so the child still feels hungry.…”

Section: Stage 2: Hyperphagiamentioning

confidence: 99%

“…Unfortunately, at this time, there are no medications that have been found to suppress the aggressive appetite of those with Prader-Willi syndrome. 1,7 However, there have been some promising results with the use of growth hormone (GH), which has been reported to accelerate linear growth, increase energy expenditure, and improve body composition. 23 Although most newborns with PWS appear to be normal length, by the second or third year of life, there seems to be a decrease in growth velocity.…”

Section: Growth Hormonementioning

confidence: 99%

Prader-Willi Syndrome A Review for Pediatric Nutrition Professionals

Pereira

Schalk

Geraghty

2009

ICAN: Infant, Child, & Adolescent Nutrition

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Prader-Willi syndrome is a complex, multidimensional disease affecting approximately 1 in 8000 to 1 in 50 000 individuals. Although there is an abundance of data available regarding Prader-Willi syndrome, there are few sources of compiled, nutritionally pertinent information. Nutrition intervention is currently the only treatment for Prader-Willi syndrome, and therefore it is critical that nutrition professionals have an understanding of the disease. This review provides background information regarding Prader-Willi syndrome and the causes of obesity and hyperphagia, as well as outlines current nutritional recommendations and strategies for working with individuals with Prader-Willi syndrome. It is recommended that the diet of these children be strictly controlled and structure provided, yet it is important to allow for some flexibility to enhance quality of life. Behavioral issues also need to be considered as they render it a challenge for parents to impose restrictions on their children’s eating patterns.

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Diet-Related Disease, Nutritional Genomics, and Food and Nutrition Professionals

DeBusk¹

2009

Journal of the American Dietetic Association

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Single-Gene Autosomal Recessive Disorders and Prader-Willi Syndrome: An Update for Food and Nutrition Professionals

Cited by 5 publications

References 42 publications

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

Proteins and proteases of Prader–Willi syndrome: a comprehensive review and perspectives

Prader-Willi Syndrome A Review for Pediatric Nutrition Professionals

Diet-Related Disease, Nutritional Genomics, and Food and Nutrition Professionals

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