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

Italian Journal of Pediatrics

Anna Maria Isdraele Romano¹  Antonio Gnoni¹  Graziana De Carlo¹  Biagio Rapone¹  Federica Taurino¹  Elvira Favoino²  Edoardo Di Naro³  Maria Teresa Loverro³  Maurizio Delvecchio⁴  Simona Fecarotta⁵  Simonetta Simonetti⁶ 

[1] Department of Basic Medical Sciences, Neurosciences and Sense Organs, University of Bari “Aldo Moro”, Bari, Italy;Department of Biomedical Sciences and Human Oncology, University of Bari “Aldo Moro”, Bari, Italy;Department of Interdisciplinary Medicine, School of Medicine, University of Bari “Aldo Moro”, Bari, Italy;Department of Metabolic Diseases, Clinical Genetics and Diabetology, Giovanni XXIII Children’s Hospital, Bari, Italy;Department of Translational Medical Sciences, Federico II University, Naples, Italy;Regional Centre for Neonatal Screening, Children Hospital “Giovanni XXIII”, Bari, Italy;

关键词: Smith-Lemli-Opitz syndrome;    Inhibitory factor 1;    Cholesterol;    Lipids;    Case report;   

DOI  :  10.1186/s13052-020-00924-2

来源: Springer

【 摘 要 】

BackgroundSmith-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 presentationThe 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).ConclusionsWe 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.

【 授权许可】

CC BY