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MKRN3 circulating levels in Prader-Willi syndrome: a pilot study.

M Mariani1, D Fintini2, G Cirillo3

  • 1Endocrinology Unit, University Pediatric Department, Bambino Gesù Children's Hospital, Piazza S.Onofrio, 4, 00165, Rome, Italy. michela.mariani@opbg.net.

Journal of Endocrinological Investigation
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Summary

Measurable makorin ring finger protein 3 (MKRN3) in Prader-Willi syndrome (PWS) patients suggests complex gene regulation. MKRN3 levels correlate with insulin resistance and FSH, indicating potential peripheral roles beyond typical PWS hypogonadism.

Keywords:
HypogonadismMKRN3Prader WilliPuberty

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Area of Science:

  • Endocrinology
  • Genetics
  • Metabolic Disorders

Background:

  • Prader-Willi syndrome (PWS) is often associated with hypogonadism, typically linked to hypothalamic dysfunction or primary gonadal issues.
  • MKRN3, a maternally imprinted gene in the 15q11.2-q13 region, encodes makorin ring finger protein 3.
  • MKRN3 deficiency is known to cause precocious puberty, a rare PWS symptom.

Purpose of the Study:

  • To assess makorin ring finger protein 3 (MKRN3) levels in patients diagnosed with Prader-Willi syndrome (PWS).
  • To investigate the relationship between MKRN3 levels and sexual hormone status, insulin resistance, and Body Mass Index (BMI) in PWS patients.

Main Methods:

  • An observational, cross-sectional study design was employed.
  • Eighty patients with genetically confirmed Prader-Willi syndrome (PWS) were enrolled.
  • Median patient age was 9.6 years.

Main Results:

  • MKRN3 levels were measurable in 49 out of 80 PWS patients (geometric mean: 34.9 ± 22 pg/ml).
  • Unmeasurable MKRN3 levels were detected in 31 patients.
  • MKRN3 levels showed an inverse correlation with HOMA-IR (p=0.005) and HbA1c (p=0.046), and a direct correlation with FSH (p=0.007).

Conclusions:

  • Measurable MKRN3 in PWS patients may indicate tissue-specific imprinting or other regulatory factors, diverging from expected unmeasurable levels due to paternal allele inactivation.
  • Correlations with HOMA-IR, HbA1c, and FSH suggest potential peripheral actions of MKRN3.
  • Further research is needed to elucidate the precise peripheral roles and regulatory mechanisms of MKRN3 in PWS.