[HTML][HTML] Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis
Patients with a recessively inherited" pure" hereditary spastic paresis (SPG5) have
mutations in the gene coding for the oxysterol 7 α 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 …
mutations in the gene coding for the oxysterol 7 α 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 …