Low cholesterol associated with Fragile X syndrome

This study was published in the American Journal of Medical Genetics. Part A 2015 Feb;167A(2):379-84

 

Study title and authors:

Cholesterol levels in fragile X syndrome.

Berry-Kravis E, Levin R, Shah H, Mathur S, Darnell JC, Ouyang B.

Departments of Pediatrics, Rush University Medical Center, USA; Departments of Neurological Sciences, Rush University Medical Center, USA; Departments of Biochemistry, Rush University Medical Center, USA.

 

This paper can be accessed at: http://www.ncbi.nlm.nih.gov/pubmed/25424470

Dr Elizabeth Berry-Kravis notes that Fragile X syndrome (FXS) is associated with intellectual disability and behavioural dysfunction, including anxiety, ADHD symptoms, and autistic features.

Dr Berry-Kravis found that during the course of follow up of patients with FXS she noted that many patients had low cholesterol levels and low levels of high density lipoprotein (HDL) cholesterol.

She then initiated a systematic review of all cholesterol values present in charts from over 500 patients with FXS and revealed that total cholesterol, low density lipoprotein (LDL) cholesterol and HDL cholesterol were all significantly reduced in males with FXS compared with normal levels.

Dr Berry-Kravis findings reveal that low cholesterol levels are associated with Fragile X syndrome.