Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.

Abstract

BACKGROUND:

Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic neurodevelopmental disorder caused by the defect in the 7-dehydrocholesterol reductase. This defect leads to the deficiency of cholesterol biosynthesis with accumulation of 7-dehydrocholesterol. Inhibitory factor 1 (IF1) is a well-known mitochondrial protein. Recently, it has been discovered in the human serum where it is reported to be involved in the HDL-cholesterol intake. Here we report the IF1 presence in the serum of two paediatric SLOS dizygotic twins treated with dietary cholesterol supplementation.

CASE PRESENTATION:

The patients showed a typical phenotype. They started dietary supplementation with cholesterol when 2 months old. The cholesterol intake was periodically titrated on the basis of weight increase and the twin 1 required a larger supplementation than the twin 2 during the follow-up. When 6.4-year-old, they underwent IF1 assay that was 7-fold increased in twin 2 compared to twin 1 (93.0 pg/ml vs 13.0 pg/ml, respectively).

CONCLUSIONS:

We report, for the first time, the presence of circulating IF1 in the serum of SLOS patients, showing different levels among them. Our findings confirm that IF1 could be a novel research target in cholesterol-related disorders and also in SLOS, and could contribute to the general debate on IF1 as a new modulator of cholesterol levels.

• Authors: Maurizio Delvecchio, Biagio Rapone, Simonetta Simonetti, Simona Fecarotta, Graziana De Carlo, Elvira Favoino, Maria Teresa Loverro, Anna Maria Isdraele Romano, Federica Taurino, Edoardo Di Naro, Antonio Gnoni
• Journal: Italian journal of pediatrics (Ital J Pediatr) Vol. 46 Issue 1 Pg. 161 (Oct 28 2020) ISSN: 1824-7288 [Electronic] England
• PMID: 33115520 (Publication Type: Case Reports, Journal Article)

Chemical References

• ATPase inhibitory protein
• Cholesterol, Dietary
• Proteins

Topics

• Cholesterol, Dietary (administration & dosage)
• Female
• Humans
• Infant
• Male
• Proteins (metabolism)
• Smith-Lemli-Opitz Syndrome (diet therapy, enzymology)
• Twins, Dizygotic