CA2480184A1 - The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin - Google Patents

The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin Download PDF

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Publication number
CA2480184A1
CA2480184A1 CA002480184A CA2480184A CA2480184A1 CA 2480184 A1 CA2480184 A1 CA 2480184A1 CA 002480184 A CA002480184 A CA 002480184A CA 2480184 A CA2480184 A CA 2480184A CA 2480184 A1 CA2480184 A1 CA 2480184A1
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Prior art keywords
deletion
mtdna
biological sample
subject
detecting
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CA002480184A
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CA2480184C (en
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Mark Birch-Machin
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MDNA LIFE SCIENCES Inc
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Individual
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    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • Wood Science & Technology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Biophysics (AREA)
  • Oncology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)

Abstract

A method for detecting the genesis and progression of UV damage to the skin. This invention is related to the field of mitochondrial genomics. In particular it is related to deletions in the mitochondrial genome, in particular the 3895 by deletion of the minor arc. The deletion can be used as an indicator of the genesis and progression of UV damage to skin, for example skin cancer, and in particular non-melanoma skin cancer (NMSC).

Claims (18)

1. A method of detecting a deletion spanning approximately nucleotides 547 to in the minor arc of the mtDNA genome, wherein said deletion is associated with skin cancer and/or sun exposure, in a subject having mtDNA, comprising:
(a) providing a biological sample from sun exposed skin from the subject;
(b) extracting mtDNA from the biological sample; and (c) detecting the presence of the deletion in the mtDNA.
2. A method of monitoring a subject for the progression toward skin cancer, comprising:
(a) providing a biological sample from the subject;
(b) extracting mtDNA from the biological sample; and (c) detecting the absence or presence of 3895 by deletion.
3. A method for determining the cumulative UV exposure in a subject having mtDNA, comprising:
(a) providing a biological sample from the subject;
(b) extracting mtDNA from the biological sample; and (c) detecting the absence or presence of 3895 by deletion.
4. A method for an early detection for NMSC development, comprising:
(a) providing a biological sample from the subject;
(b) extracting mtDNA from the biological sample; and (c) detecting the absence or presence of 3895 by deletion.
5. A method for monitoring long term safety of clincial UV phototherapy regimes, comprising:
(a) providing a biological sample from the subject;

(b) extracting mtDNA from the biological sample; and (c) detecting the absence or presence of 3895 by deletion.
6. The method of any of claims 1 to 5 wherein the deletion is approximately bp.
7. The method of any of claims 1 to 5 wherein the deletion comprises a span of mtDNA from approximately mtTF1 binding site in the D-loop to tRNA methionine.
8. The method of any of claims 1 to 5 wherein the deletion includes substantially a 12s rRNA gene, a16s rRNA gene, a ND1 gene and promoters for transcription of H
and L strands.
9. The method of any of claims 1 to 5 wherein the step of detecting the presence of the deletion in the mtDNA comprises PCR analysis.
10. The method of claim 9 wherein the PCR analysis comprises radioactive PCR
analysis.
11. A nucleic acid primer L404 comprising CTT TTG GCG GTA TGC ACT TT.
12. A nucleic acid primer H4676 comprising GAT TAT GGA TGC GGT TGC TT.
13. The method of any of claims 1 to 5 wherein the biological sample is from a dermis layer of the subject.
14. The method of claim 13 wherein the biological sample is from rarely sun exposed, occasionally sun exposed, or usually sun exposed skin.
15. The method of claim 13 further comprising a step of comparing the absence or presence of 3895 deletion in rarely sun exposed, occasionally sun exposed, or usually sun exposed skin.
16. Use of a mtDNA deletion spanning approximately 547 to 4443 of the mtDNA
genome for detecting sun exposure and/or skin cancer.
17. Use of a mtDNA deletion spanning approximately 547 to 4443 of the mtDNA
genome as a biomarker for NMSC.
18. A method for the collection of a patient sample for use in diagnosing skin cancer by using a deletion spanning approximately nucleotides 547 to 4443 in the minor arc of the mtDNA genome, comprising:
(a) providing a biological sample from the subject.
CA2480184A 2004-10-14 2004-10-14 The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin Expired - Fee Related CA2480184C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2480184A CA2480184C (en) 2004-10-14 2004-10-14 The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
CA2480184A CA2480184C (en) 2004-10-14 2004-10-14 The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin

Publications (2)

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CA2480184A1 true CA2480184A1 (en) 2006-04-14
CA2480184C CA2480184C (en) 2011-12-20

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CA2480184A Expired - Fee Related CA2480184C (en) 2004-10-14 2004-10-14 The use of a 3895 bp mitochondrial dna deletion as a marker for sunlight exposure in human skin

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Cited By (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011106892A1 (en) * 2010-03-01 2011-09-09 Mitomics Inc. Uv associated mtdna fusion transcripts and methods and uses thereof

Cited By (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2011106892A1 (en) * 2010-03-01 2011-09-09 Mitomics Inc. Uv associated mtdna fusion transcripts and methods and uses thereof
EP3305902A1 (en) 2010-03-01 2018-04-11 MDNA Life Sciences Inc. Uv associated mtdna fusion transcripts and methods and uses thereof

Also Published As

Publication number Publication date
CA2480184C (en) 2011-12-20

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