Cystic fibrosis detection method
First Claim
1. A method for the diagnosis of cystic fibrosis, the detection of non-symptomatic carriers of the disease and the identification of non-affected persons, which method comprises:
- (A) obtaining a sample of cells possessing mitochondria from a human subject,(B) preparing a homogenate of the cells,(C) performing an assay on the homogenate of cells which measures the mitochondrial activity of the cells, and(D) evaluating the assay by comparing the measurements with standards established as a result of similar assays of other subjects of known cystic fibrosis condition.
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Abstract
A method of diagnosing cystic fibrosis, identifying carriers for cystic fibrosis, and non-carriers or "normal" persons. Heretofore, no carrier or prenatal detection procedure for cystic fibrosis existed. The detection method is based on the discovery of the genetic abnormality or biochemical defect in cystic fibrosis, which occurs in mitochondria, minute bodies found in the cytoplasma of most cells which are the principal energy source of the cell and contain the cytochrome enzymes of terminal electron transport. The method comprises an assay carried out on preparations derived from human cells possessing mitochondria. The assay may be a kinetic assay of the enzyme complex of the energy conserving site of the mitochondrial electron transport system of the cells or an assay of mitochondrial activity governed by the enzyme complex. The assay is then evaluated by comparison with standards established as the result of similar assays of cells of other subjects of known condition. The assays provide determination of characteristics which differ in the three types of individuals (normal, carrier and affected) and provide a basis for their distinction.
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Citations
17 Claims
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1. A method for the diagnosis of cystic fibrosis, the detection of non-symptomatic carriers of the disease and the identification of non-affected persons, which method comprises:
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(A) obtaining a sample of cells possessing mitochondria from a human subject, (B) preparing a homogenate of the cells, (C) performing an assay on the homogenate of cells which measures the mitochondrial activity of the cells, and (D) evaluating the assay by comparing the measurements with standards established as a result of similar assays of other subjects of known cystic fibrosis condition. - View Dependent Claims (2, 3, 4, 5, 6, 7, 8, 9, 11, 12, 13, 14, 15, 16, 17)
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10. A method for the diagnosis of cystic fibrosis, the detection of non-symptomatic carriers of the disease and identification of non-affected normal individuals, which method comprises:
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(A) obtaining a sample of venous blood from a human subject, (B) isolating the lymphocytes from said blood sample, (C) preparing a homogenate of the lymphocyte cells, (D) performing a kinetic assay of the NADH dehydrogenase enzyme complex of the first energy conserving site of the mitochondrial electron transport system of the lymphocyte cells by determination of the pH optimum for activity of said enzyme at pH values of about 8.0, 8.3 and 8.6, and (E) evaluating the assay by comparison with standards established as the result of similar assays of other subjects of known conditions.
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Specification