Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report
Delvecchio M, Rapone B, Simonetti S, Fecarotta S, De Carlo G, Favoino E, Loverro MT, Romano AMI, Taurino F, Di Naro E, Gnoni A
Italian journal of pediatrics · 2 citations
Review labels
Neutral facts our review recorded about how this study was done. They describe method, never whether we like the result.
How it was studied
- Design
- Case report (indexed by PubMed)
- Studied in
- People
- Main outcome
- Health markers and function
- Intake measured by
- Not stated
Who paid for it
- Funding
- Funding not disclosed
Publication
- Published
- 2020-10-28 · Ital J Pediatr · vol. 46 · issue 1 · p. 161
- Publisher
- BioMed Central
- Cited
- 2 citations · more than 54% of similar papers · 0.2× the field average
- References
- 32 works
- Access
- Open access (journal) · CC-BY
- Research areas
- Cholesterol and Lipid Metabolism · Peroxisome Proliferator-Activated Receptors · Lipid metabolism and biosynthesis
- Keywords
- Smith–Lemli–Opitz syndrome, Medicine, Cholesterol, Internal medicine, Endocrinology, Reductase, Enzyme, Biology, 7-Dehydrocholesterol reductase, Biochemistry
- MeSH
- humans, smith-lemli-opitz syndrome, cholesterol, dietary, proteins, twins, dizygotic, infant, female, male, atpase inhibitory protein
11 authors
From IT
- Maurizio DelvecchioOspedale Pediatrico Giovanni XXIII
- Biagio RaponeUniversity of Bari Aldo Moro
- Simonetta SimonettiOspedale Pediatrico Giovanni XXIII
- Simona FecarottaFederico II University Hospital
- Graziana De CarloUniversity of Bari Aldo Moro
- Elvira FavoinoUniversity of Bari Aldo Moro
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.
Abstract via Europe PMC. Copyright remains with the authors or publisher (CC BY).
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