Somatic mitochondrial DNA mutations in adult-onset leukaemia
Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated th...
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| Veröffentlicht in: | Leukemia 2003-12, Vol.17 (12), p.2487-2491 |
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| creator | HE, L LUO, I PROCTOR, S. I MIDDLETON, P. G BLAKELY, E. L TAYLOR, R. W TURNBULL, D. M |
| description | Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated the incidence of somatic mitochondrial DNA (mtDNA) mutations in patients with adult-onset leukaemia. We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals ( approximately 40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia. |
| doi_str_mv | 10.1038/sj.leu.2403146 |
| format | Article |
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I ; MIDDLETON, P. G ; BLAKELY, E. L ; TAYLOR, R. W ; TURNBULL, D. M</creator><creatorcontrib>HE, L ; LUO, I ; PROCTOR, S. I ; MIDDLETON, P. G ; BLAKELY, E. L ; TAYLOR, R. W ; TURNBULL, D. M</creatorcontrib><description>Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated the incidence of somatic mitochondrial DNA (mtDNA) mutations in patients with adult-onset leukaemia. We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals ( approximately 40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia.</description><identifier>ISSN: 0887-6924</identifier><identifier>EISSN: 1476-5551</identifier><identifier>DOI: 10.1038/sj.leu.2403146</identifier><identifier>PMID: 14523470</identifier><identifier>CODEN: LEUKED</identifier><language>eng</language><publisher>London: Nature Publishing</publisher><subject>Adolescent ; Adult ; Aged ; Aged, 80 and over ; Bats ; Biological and medical sciences ; Blood ; Cohort Studies ; Deoxyribonucleic acid ; DNA ; DNA, Mitochondrial - genetics ; Epithelial cells ; Epithelium ; Female ; Genetic Predisposition to Disease - epidemiology ; Genomes ; Genomic instability ; Hematologic and hematopoietic diseases ; Hematological diseases ; Humans ; Incidence ; Leukemia ; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis ; Male ; Medical sciences ; Middle Aged ; Mitochondrial DNA ; Mutation ; Myelodysplastic syndrome ; Myelodysplastic syndromes ; Neurobiology ; Neurosciences ; Nucleotide sequence ; Patients ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Restriction Fragment Length ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - epidemiology ; Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics ; Restriction fragment length polymorphism ; Tumors</subject><ispartof>Leukemia, 2003-12, Vol.17 (12), p.2487-2491</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Nature Publishing Group Dec 2003</rights><rights>Nature Publishing Group 2003.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c407t-b34031f9c508996eb5a840ce377ff93e0e26c503cf3c120643bb4593360110cc3</citedby><cites>FETCH-LOGICAL-c407t-b34031f9c508996eb5a840ce377ff93e0e26c503cf3c120643bb4593360110cc3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,776,780,27901,27902</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15357915$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14523470$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>HE, L</creatorcontrib><creatorcontrib>LUO, I</creatorcontrib><creatorcontrib>PROCTOR, S. I</creatorcontrib><creatorcontrib>MIDDLETON, P. G</creatorcontrib><creatorcontrib>BLAKELY, E. L</creatorcontrib><creatorcontrib>TAYLOR, R. W</creatorcontrib><creatorcontrib>TURNBULL, D. M</creatorcontrib><title>Somatic mitochondrial DNA mutations in adult-onset leukaemia</title><title>Leukemia</title><addtitle>Leukemia</addtitle><description>Mitochondrial genome instability has recently been demonstrated in a wide variety of human tumours and is implicated in the development of the myelodysplastic syndromes, a heterogeneous group of haematological disorders with an increased risk of malignant transformation. We therefore investigated the incidence of somatic mitochondrial DNA (mtDNA) mutations in patients with adult-onset leukaemia. We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals ( approximately 40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Bats</subject><subject>Biological and medical sciences</subject><subject>Blood</subject><subject>Cohort Studies</subject><subject>Deoxyribonucleic acid</subject><subject>DNA</subject><subject>DNA, Mitochondrial - genetics</subject><subject>Epithelial cells</subject><subject>Epithelium</subject><subject>Female</subject><subject>Genetic Predisposition to Disease - epidemiology</subject><subject>Genomes</subject><subject>Genomic instability</subject><subject>Hematologic and hematopoietic diseases</subject><subject>Hematological diseases</subject><subject>Humans</subject><subject>Incidence</subject><subject>Leukemia</subject><subject>Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Mitochondrial DNA</subject><subject>Mutation</subject><subject>Myelodysplastic syndrome</subject><subject>Myelodysplastic syndromes</subject><subject>Neurobiology</subject><subject>Neurosciences</subject><subject>Nucleotide sequence</subject><subject>Patients</subject><subject>Point Mutation</subject><subject>Polymerase Chain Reaction</subject><subject>Polymorphism, Restriction Fragment Length</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - epidemiology</subject><subject>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</subject><subject>Restriction fragment length polymorphism</subject><subject>Tumors</subject><issn>0887-6924</issn><issn>1476-5551</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkUtLxDAUhYMozji6dSlF0V3rzbsBN8P4hEEX6jqkmRQ79jE27cJ_b8oUBgRxc8PlfLmvg9AphgQDTa_9OildnxAGFDOxh6aYSRFzzvE-mkKaylgowiboyPs1wCCKQzTBjBPKJEzRzWtTma6wUVV0jf1o6lVbmDK6fZ5HVd8Fpal9VNSRWfVlF4fEdVFo-GlcVZhjdJCb0ruT8Z2h9_u7t8VjvHx5eFrMl7FlILs4o8N0ubIcUqWEy7hJGVhHpcxzRR04IoJGbU4tJiAYzTLGFaUCMAZr6Qxdbetu2uard77TVeGtK0tTu6b3WoZ9OEnTf0EcbqEwG8CLX-C66ds6LKGJYFyCSLEM1PmfFAFORBgvQMkWsm3jfetyvWmLyrTfGoMePNJ-rcPJ9OhR-HA2Vu2zyq12-GhKAC5HwHhryrw1tS38juOUSxXiDyhWlzE</recordid><startdate>20031201</startdate><enddate>20031201</enddate><creator>HE, L</creator><creator>LUO, I</creator><creator>PROCTOR, S. 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Malignant reticulosis. Myelofibrosis</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Mitochondrial DNA</topic><topic>Mutation</topic><topic>Myelodysplastic syndrome</topic><topic>Myelodysplastic syndromes</topic><topic>Neurobiology</topic><topic>Neurosciences</topic><topic>Nucleotide sequence</topic><topic>Patients</topic><topic>Point Mutation</topic><topic>Polymerase Chain Reaction</topic><topic>Polymorphism, Restriction Fragment Length</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - epidemiology</topic><topic>Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics</topic><topic>Restriction fragment length polymorphism</topic><topic>Tumors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>HE, L</creatorcontrib><creatorcontrib>LUO, I</creatorcontrib><creatorcontrib>PROCTOR, S. I</creatorcontrib><creatorcontrib>MIDDLETON, P. G</creatorcontrib><creatorcontrib>BLAKELY, E. 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We sequenced the entire mitochondrial genome from both normal tissue (buccal epithelial cells) and the leukaemia from 24 patients with adult-onset leukaemia. Somatic mtDNA mutation was present in nine individuals ( approximately 40%) and in each case the tumour genome differed from the normal genome sequence by a single sequence change. Using PCR-RFLP analysis and real-time PCR, we have studied in detail the mutation present in one patient with acute lymphatic leukaemia, demonstrating that the mutation is associated specifically with the leukaemia.</abstract><cop>London</cop><pub>Nature Publishing</pub><pmid>14523470</pmid><doi>10.1038/sj.leu.2403146</doi><tpages>5</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aged, 80 and over Bats Biological and medical sciences Blood Cohort Studies Deoxyribonucleic acid DNA DNA, Mitochondrial - genetics Epithelial cells Epithelium Female Genetic Predisposition to Disease - epidemiology Genomes Genomic instability Hematologic and hematopoietic diseases Hematological diseases Humans Incidence Leukemia Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis Male Medical sciences Middle Aged Mitochondrial DNA Mutation Myelodysplastic syndrome Myelodysplastic syndromes Neurobiology Neurosciences Nucleotide sequence Patients Point Mutation Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Precursor Cell Lymphoblastic Leukemia-Lymphoma - epidemiology Precursor Cell Lymphoblastic Leukemia-Lymphoma - genetics Restriction fragment length polymorphism Tumors |
| title | Somatic mitochondrial DNA mutations in adult-onset leukaemia |
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