Genetic testing
OwnerMark Ferguson, William Ollier +1inventors
InventorsMark Ferguson, William Ollier, Ardeshir Bayat
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Abstract
The present invention relates to an in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition. Regions of the genome that may be examined include the 16srRNA region, the ND2 gene, the cytochrome b (complex III) region and the COI gene. The invention also relates to kits for use in the diagnostic method and the medical use of modulators of the mitochondrial genome.
Claims23
1-22. (canceled)
An in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the 16srRNA gene of the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition.
An in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the ND2 gene of NADH-quinone oxidoreductase (complex I) of the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition.
An in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the cytochrome b (complex III) region of the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition.
An in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the COI gene of Cytochrome c oxidase (complex IV) region of the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of the condition.
The use of a modulator of mitochondrial genome gene products for use in the manufacture of a medicament for the treatment of a condition at least partially characterized by inappropriate fibrosis or scarring.
A delivery system for use in a gene therapy technique, said delivery system comprising a DNA molecule encoding for a protein which directly or indirectly modulates mitochondrial genome gene products, said DNA molecule being capable of being transcribed to allow the expression of said protein and thereby treating a condition at least partially characterized by inappropriate fibrosis or scarring.
An in vitro method for diagnosing or detecting a predisposition to a condition at least partially characterized by inappropriate fibrosis or scarring, the method comprising examining the mitochondrial genome from a subject of interest to detect the presence of a genetic polymorphism or mutation linked to the development of condition.
Dependencies are inferred from the claim text.