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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.
Context:
Hypogonadism in Prader-Willi syndrome (PWS) is generally attributed to hypothalamic dysfunction or to primary gonadal defect. MKRN3, a maternal imprinted gene located on 15q11.2-q13 region, encodes makorin ring finger protein 3, whose deficiency causes precocious puberty, an extremely rare symptom in PWS.
Objective:
This study aimed to evaluate MKRN3 levels in patients with PWS and to analyze its correlation with sexual hormone levels, insulin resistance and Body Mass Index (BMI).
Methods:
We performed an observational cross-sectional study and enrolled 80 patients with genetically confirmed diagnosis of PWS with median age of 9.6 years.
Results:
MKRN3 levels were measurable in 49 PWS patients with a geometric mean of 34.9 ± 22 pg/ml (median: 28.4). Unmeasurable levels of MKRN3 were found in 31 patients. No statistically significant differences were found between patients with and without measurable MKRN3 levels for any clinical, biochemical, or genetic characteristics. However, MKRN3 levels were inversely correlated with HOMA-IR index (p: 0.005) and HbA1c (p: 0.046) values. No statistically significant correlations were found between MKRN3 and LH, estradiol and testosterone concentrations, pubertal development and genetic defect, whereas a direct correlation with FSH was found (p: 0.007).
Conclusions:
The typical genetic defect of PWS should lead to unmeasurable levels of the MKRN3 protein due to the inactivation of the paternal allele. Measurable circulating MKRN3 could suggest the possible involvement of tissue-specific imprinting mechanisms and other regulatory factors in gene expression. Correlations with HOMA-IR index, HbA1c, and FSH suggest peripheral actions of MKRN3, but future studies are warranted to investigate this topic.
Insights
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.
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.
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