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- Title
Dietary cholesterol supplementation and inhibitory factor 1 serum levels in two dizygotic Smith-Lemli-Opitz syndrome twins: a case report.
- Authors
Delvecchio, Maurizio; Rapone, Biagio; Simonetti, Simonetta; Fecarotta, Simona; De Carlo, Graziana; Favoino, Elvira; Loverro, Maria Teresa; Romano, Anna Maria Isdraele; Taurino, Federica; Di Naro, Edoardo; Gnoni, Antonio
- 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.
- Subjects
DIETARY supplements; CHOLESTEROL content of food; OXIDOREDUCTASES; DIZYGOTIC twins; SMITH-Lemli-Opitz syndrome
- Publication
Italian Journal of Pediatrics, 2020, Vol 46, Issue 1, pN.PAG
- ISSN
1720-8424
- Publication type
Article
- DOI
10.1186/s13052-020-00924-2