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Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Schüle, Rebecca Siddique, Teepu Deng, Han-Xiang Yang, Yi Donkervoort, Sandra Hansson, Magnus Madrid, Ricardo E. Siddique, Nailah Schöls, Ludger Björkhem, Ingemar
Description	Country affiliation: Germany Author Affiliation: Schüle R ( Hertie Institute for Clinical Brain Research and Center of Neurology, University of Tubingen, Tubingen, Germany.)
Abstract	Patients with a recessively inherited 'pure' hereditary spastic paresis (SPG5) have mutations in the gene coding for the oxysterol 7 alpha hydroxylase (CYP7B1). One of the expected metabolic consequences of such mutations is accumulation of oxysterol substrates due to decreased enzyme activity. In accordance with this, we demonstrate here that four patients with the SPG5 disease have 6- to 9-fold increased plasma levels of 27-hydroxycholesterol. A much higher increase, 30- to 50-fold, was found in cerebrospinal fluid. The plasma levels of 25-hydroxycholesterol were increased about 100-fold. There were no measurable levels of this oxysterol in cerebrospinal fluid. The pattern of bile acids in serum was normal, suggesting a normal bile acid synthesis. The findings are discussed in relation to two transgenic mouse models with increased levels of 27-hydroxy cholesterol in the circulation but without neurological symptoms: the cyp27a1 transgenic mouse and the cyp7b1 knockout mouse. The absolute plasma levels of 27-hydroxycholesterol in the latter models are, however, only about 20% of those in the SPG5 patients. If the accumulation of 27-hydroxycholesterol is an important pathogenetic factor, a reduction of its levels may reduce or prevent the neurological symptoms. A possible strategy to achieve this is discussed.
File Format	HTM / HTML
ISSN	00222275
e-ISSN	15397262
DOI	10.1194/jlr.M002543
Journal	The Journal of Lipid Research
Issue Number	4
Volume Number	51
Language	English
Publisher	American Society for Biochemistry and Molecular Biology
Publisher Date	2010-04-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Biochemistry Hydroxycholesterols Blood Cerebrospinal Fluid Spastic Paraplegia, Hereditary Steroid Hydroxylases Genetics Bile Acids And Salts Heterozygote Homozygote Neurodegenerative Diseases Etiology Phosphorylation Complications Tau Proteins Research Support, N.i.h., Extramural Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Case study Article
Subject	Cell Biology Biochemistry Endocrinology

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