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Salivary abnormalities in Prader-Willi syndrome

P S Hart1

  • 1Department of Pediatrics/Section on Medical Genetics, Bowman Gray School of Medicine, Winston-Salem, North Carolina 27157, USA. pshart@bgsm.edu

Annals of the New York Academy of Sciences
|May 26, 1998
PubMed
Summary

Prader-Willi syndrome (PWS) patients exhibit significantly reduced salivary flow and altered saliva composition. These salivary changes, including concentrated ions and proteins, occur in both deletion and maternal uniparental disomy cases, indicating imprinting

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Area of Science:

  • Genetics
  • Endocrinology
  • Developmental Biology

Background:

  • Prader-Willi syndrome (PWS) is a complex genetic disorder.
  • PWS is characterized by growth retardation, hypotonia, and hyperphagia leading to obesity.
  • Genetic causes include paternal 15q11q13 deletion or maternal uniparental disomy (UPD).

Purpose of the Study:

  • To investigate salivary flow rate and composition in individuals with Prader-Willi syndrome.
  • To determine if salivary abnormalities are consistent across different genetic causes of PWS.

Main Methods:

  • Quantitative analysis of salivary gland function.
  • Biochemical analysis of salivary components (ions, proteins).
  • Comparison of PWS patients (deletion and UPD) with healthy controls.

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Main Results:

  • Patients with PWS showed approximately 20% of normal salivary flow rates.
  • Saliva from PWS patients had increased concentrations of ions and proteins.
  • These salivary findings were observed in both deletion and maternal UPD subgroups.

Conclusions:

  • Reduced salivary flow and altered composition are characteristic of Prader-Willi syndrome.
  • The consistent findings suggest the involvement of imprinted genes in salivary gland regulation.
  • Further research into the specific imprinted genes is warranted.