Mitochondrial dosimeter
AssigneeThe Johns Hopkins University
InventorsMakiko Fliss, David Sidransky, Jin Jen, Komelia Polyak, Bert Vogelstein, Kenneth W. Kinzler
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Abstract
Mitochondrial mutations occur as a product of contact of a person with an environmental pollutant. Mitochondrial mutations are readily detectable in body fluids. Measurement of mitochondrial mutations in body fluids can be used as a dosimeter to monitor exposure to the environmental pollutant. Mitochondrial mutations can also be detected in cancer patients. Probes and primers containing mutant mitochondrial sequences can be used to monitor patient condition.
Claims54
A method to aid in detecting the presence of tumor cells in a human patient, comprising:
- determining the presence of a mutation in a D-loop of a mitochondrial genome of a cell sample of a human patient, wherein the mutation is found in a tumor of the human patient but not in normal tissue of the human patient;
- wherein the tumor is selected from the group of tumors consisting of:
- lung, head and neck, bladder, prostate, and pancreas;
- and
- identifying the human patient as having a tumor if one or more single basepair mutations are determined in the mitochondrial genome of the cell sample of the human patient.
A method to aid in detecting the presence of tumor cells in a human patient, comprising:
- determining the presence of a single basepair mutation in a mitochondrial genome of a cell sample of a human patient, wherein the mutation is found in a cancer of the human patient but not in normal tissue of the human patient, wherein the cancer is selected from the group of cancers consisting of:
- lung, head and neck, bladder, prostate, and pancreas;
- and
- identifying the human patient as having a tumor if one or more single basepair mutations are determined in the mitochondrial genome of the cell sample of the human patient.
A method to aid in detecting the presence of tumor cells in a patient, comprising:
- determining the presence of a mutation in a mitochondrial genome of a cell sample of a patient, wherein the mutation is selected from the group consisting of:
- T→C at nucleotide 114;
- ΔC at nucleotide 302;
- C→A at nucleotide 386;
- insert T at nucleotide 16189;
- A→C at nucleotide 16265;
- A→T at nucleotide 16532;
- C→T at nucleotide 150;
- T→C at nucleotide 195;
- C→A at nucleotide 16183;
- C→T at nucleotide 16187;
- T→C at nucleotide 16519;
- G→A at nucleotide 16380;
- G→A at nucleotide 75;
- insert C at nucleotide 302;
- insert C→G at nucleotide 514;
- T→C at nucleotide 16172;
- C→T at nucleotide 16292;
- A→G at nucleotide 16300;
- A→G at nucleotide 10792;
- C→T at nucleotide 10793;
- C→T at nucleotide 10822;
- A→G at nucleotide 10978;
- A→G at nucleotide 11065;
- G→A at nucleotide 11518;
- C→T at nucleotide 12049;
- T→C at nucleotide 10966;
- G→A at nucleotide 11150;
- G→A at nucleotide 2056;
- T→C at nucleotide 2445;
- T→C at nucleotide 2664;
- T→C at nucleotide 10071;
- T→C at nucleotide 10321;
- T→C at nucleotide 12519 ;
- Δ 7 amino acids at nucleotide 15642;
- G→A at nucleotide 5521;
- G→A at nucleotide 12345;
- and G→A at nucleotide 3054;
- and
- identifying the patient as having a tumor selected from the group of tumors consisting of:
- lung, head and neck, bladder, breast, prostate, pancreas, and liver if one or more mutations are determined in the mitochondrial genome of the cell sample of the patient.
Dependencies are inferred from the claim text.