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Rhodanese isozymes in three subjects with Leber's optic neuropathy
D B Whitehouse1, C J Poole, P R Kind
1MRC Human Biochemical Genetics Unit, Galton Laboratory, University College London.
Journal of Medical Genetics
|February 1, 1989
Summary
Leber's optic neuropathy is not linked to rhodanese enzyme deficiency in the liver. This study found no differences in rhodanese isozymes in liver biopsies from affected individuals compared to controls.
Area of Science:
- Biochemistry
- Genetics
- Ophthalmology
Background:
- Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease.
- Previous research suggested a link between LHON and reduced rhodanese activity.
Observation:
- This study analyzed rhodanese isozymes in liver biopsies from three LHON patients.
- Isozyme patterns were examined using isoelectric focusing.
Findings:
- Rhodanese isozyme patterns in LHON patients were identical to control subjects.
- No novel isozymes were detected, and no deficiency was observed.
Implications:
- The findings challenge the proposed association between rhodanese deficiency and LHON.
- Further research is needed to understand the underlying mechanisms of LHON.