Rhodanese isozymes in three subjects with Leber's optic neuropathy.
نویسندگان
چکیده
Previous studies have reported an association between Leber's optic neuropathy and deficiency of rhodanese activity in liver and rectal mucosa. We have studied the rhodanese isozymes in liver biopsies from three subjects with Leber's optic neuropathy. The rhodanese isozyme patterns were indistinguishable from controls both in relative intensity and position on the isoelectric focusing pH gradient. No new rhodanese isozymes were observed and there was no evidence of deficiency in any of the cases.
منابع مشابه
Deficiency of thiosulphate sulphurtransferase (rhodanese) in Leber's hereditary optic neuropathy.
Leber's hereditary optic neuropathy is a rare cause of progressive visual failure. Its cause is unknown, but one hypothesis is that patients have a defect in the detoxication of cyanide. One of the enzymes used in this detoxication is thiosulphate sulphurtransferase (rhodanese). The activity of this enzyme was measured in the rectal mucosa of a group of subjects with Leber's hereditary optic ne...
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We studied one patient with Leber's optic atrophy (LOA) in the acute stage and 12 at the chronic stage of the disease, and measured the activity of rhodanese in white blood cells and the level of cyanide in whole blood. In the patient with acute disease the blood cyanide level was significantly increased at first. Treatment of this patient with cyanide antagonists reduced his cyanide level, but...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 26 2 شماره
صفحات -
تاریخ انتشار 1989