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Published on: February 13, 2013
Children With Short Stature Display Reduced ACE2 Expression in Peripheral Blood Mononuclear Cells
Federica Tonon1, Gianluca Tornese2, Fabiola Giudici3
1Department of Medical Surgical and Health Sciences, Ospedale di Cattinara, University of Trieste, Trieste, Italy.
Insights
Reduced angiotensin-converting enzyme 2 (ACE2) expression is linked to short stature in children. Lower ACE2 levels were observed in children with short stature, suggesting a potential diagnostic marker for growth issues.
Area of Science:
- Endocrinology
- Pediatrics
- Genetics
Background:
- The renin-angiotensin system plays a role in growth regulation.
- Previous studies show angiotensin-converting enzyme 2 (ACE2)-knockout mice have reduced weight.
- The exact causes of short stature are often unknown.
Purpose of the Study:
- To investigate if children with short stature exhibit reduced ACE2 expression compared to controls.
- To determine the significance of ACE2 expression in short stature.
Main Methods:
- A case-control study involving children aged 2-14 years.
- Measurement of ACE and ACE2 expression in peripheral blood mononuclear cells.
- Exclusion of children with specific medical conditions to ensure a focused study group.
Main Results:
- Children with short stature showed significantly lower ACE2 expression (0.40 fold induction) compared to controls.
- A higher ACE/ACE2 ratio was observed in children with short stature.
- ACE2 expression was inversely associated with the risk of short stature (OR 0.26) with moderate predictive accuracy (AUC 0.73).
Conclusions:
- The study confirms an association between reduced ACE2 expression and growth retardation.
- Lower ACE2 expression may serve as a potential indicator for short stature.
- Further research is needed to explore the diagnostic implications of ACE2 expression in short stature.
Background:
The cause of short stature remains often unknown. The renin-angiotensin system contributes to growth regulation. Several groups reported that angiotensin-converting enzyme 2 (ACE2)-knockout mice weighed less than controls. Our case-control study aimed to investigate if children with short stature had reduced ACE2 expression as compared to controls, and its significance.
Materials And Methods:
children aged between 2 and 14 years were consecutively recruited in a University Hospital pediatric tertiary care center. Cases were children with short stature defined as height SD ≤ -2 diagnosed with growth hormone deficiency (GHD) or idiopathic short stature (ISS), before any treatment. Exclusion criteria were: acute diseases, kidney disease, endocrine or autoimmune disorders, precocious puberty, genetic syndromes, SGA history. ACE and ACE2 expression were measured in peripheral blood mononuclear cells, angiotensins were measured by ELISA.
Results:
Children with short stature displayed significantly lower ACE2 expression, being 0.40 fold induction (0.01-2.27) as compared to controls, and higher ACE/ACE2, with no differences between GHD and ISS. ACE2 expression was significantly and inversely associated with the risk of short stature, OR 0.26 (0.07-0.82), and it had a moderate accuracy to predict it, with an AUC of 0.73 (0.61-0.84). The cutoff of 0.45 fold induction of ACE2 expression was the value best predicting short stature, identifying correctly 70% of the children.
Conclusions:
Our study confirms the association between the reduction of ACE2 expression and growth retardation. Further studies are needed to determine its diagnostic implications.
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