Abstract | BACKGROUND: OBJECTIVE: METHODS: FH enzyme activity was determined in the whole cell, cytosolic, and mitochondrial fractions in 50 lymphoblastoid and 16 fibroblast cell lines including cell lines from individuals with HLRCC with 16 different mutations. RESULTS: Lymphoblastoid cell lines (n = 20) and fibroblast cell lines (n = 11) from individuals with HLRCC had lower FH enzyme activity than cells from normal controls (p<0.05). The enzyme activity in lymphoblastoid cell lines from three individuals with mutations in R190 was not significantly different from individuals with other missense mutations. The cytosolic and mitochondrial FH activity of cell lines from individuals with HLRCC was reduced compared with those from control cell lines (p<0.05). There was no significant difference in enzyme activity between control cell lines (n = 4) and cell lines from affected individuals with other hereditary renal cancer syndromes (n = 22). CONCLUSIONS: FH enzyme activity testing provides a useful diagnostic method for confirmation of clinical diagnosis and screening of at-risk family members.
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Authors | M Pithukpakorn, M-H Wei, O Toure, P J Steinbach, G M Glenn, B Zbar, W M Linehan, J R Toro |
Journal | Journal of medical genetics
(J Med Genet)
Vol. 43
Issue 9
Pg. 755-62
(Sep 2006)
ISSN: 1468-6244 [Electronic] England |
PMID | 16597677
(Publication Type: Letter, Research Support, N.I.H., Intramural)
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Chemical References |
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Topics |
- Amino Acid Sequence
- Carcinoma, Renal Cell
(enzymology)
- Case-Control Studies
- Cells, Cultured
- Fibroblasts
(enzymology)
- Fumarate Hydratase
(chemistry, metabolism)
- Humans
- Leiomyomatosis
(enzymology)
- Lymphocytes
(enzymology)
- Models, Molecular
- Molecular Sequence Data
- Mutation
(genetics)
- Neoplastic Syndromes, Hereditary
(enzymology)
- Pedigree
- Phenotype
- Sequence Homology, Amino Acid
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