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Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors

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Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. / Kurtz, Andreas; Lueth, Maria; Kluwe, Lan; Zhang, Tingguo; Foster, Rosemary; Mautner, Victor-Felix; Hartmann, Melanie; Tan, Duan-Jun; Martuza, Robert L; Friedrich, Reinhard E; Driever, Pablo Hernáiz; Wong, Lee-Jun C.

in: MOL CANCER RES, Jahrgang 2, Nr. 8, 01.08.2004, S. 433-41.

Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung

Harvard

Kurtz, A, Lueth, M, Kluwe, L, Zhang, T, Foster, R, Mautner, V-F, Hartmann, M, Tan, D-J, Martuza, RL, Friedrich, RE, Driever, PH & Wong, L-JC 2004, 'Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors', MOL CANCER RES, Jg. 2, Nr. 8, S. 433-41.

APA

Kurtz, A., Lueth, M., Kluwe, L., Zhang, T., Foster, R., Mautner, V-F., Hartmann, M., Tan, D-J., Martuza, R. L., Friedrich, R. E., Driever, P. H., & Wong, L-J. C. (2004). Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. MOL CANCER RES, 2(8), 433-41.

Vancouver

Kurtz A, Lueth M, Kluwe L, Zhang T, Foster R, Mautner V-F et al. Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors. MOL CANCER RES. 2004 Aug 1;2(8):433-41.

Bibtex

@article{bee5e29e087b4621ba15a37896390bbf,
title = "Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors",
abstract = "Neurofibromatosis type 1 is an autosomal dominantly inherited disease predisposing to a multitude of tumors, most characteristically benign plexiform neurofibromas and diffuse cutaneous neurofibromas. We investigated the presence and distribution of somatic mitochondrial DNA (mtDNA) mutations in neurofibromas and in nontumor tissue of neurofibromatosis type 1 patients. MtDNA alterations in the entire mitochondrial genome were analyzed by temporal temperature gradient gel electrophoresis followed by DNA sequencing. Somatic mtDNA mutations in tumors were found in 7 of 19 individuals with cutaneous neurofibromas and in 9 of 18 patients with plexiform neurofibromas. A total of 34 somatic mtDNA mutations were found. All mutations were located in the displacement loop region of the mitochondrial genome. Several plexiform neurofibromas from individual patients had multiple homoplasmic mtDNA mutations. In cutaneous neurofibromas, the same mtDNA mutations were always present in tumors from different locations of the same individual. An increase in the proportion of the mutant mtDNA was always found in the neurofibromas when compared with nontumor tissues. The somatic mtDNA mutations were present in the Schwann cells of the analyzed multiple cutaneous neurofibromas of the same individual. The observed dominance of a single mtDNA mutation in multiple cutaneous neurofibromas of individual patients indicates a common tumor cell ancestry and suggests a replicative advantage rather than random segregation for cells carrying these mutated mitochondria.",
keywords = "Base Sequence, DNA Mutational Analysis, DNA, Mitochondrial, Genes, Neurofibromatosis 1, Germ-Line Mutation, Humans, Mutation, Neurofibromatosis 1, Skin",
author = "Andreas Kurtz and Maria Lueth and Lan Kluwe and Tingguo Zhang and Rosemary Foster and Victor-Felix Mautner and Melanie Hartmann and Duan-Jun Tan and Martuza, {Robert L} and Friedrich, {Reinhard E} and Driever, {Pablo Hern{\'a}iz} and Wong, {Lee-Jun C}",
year = "2004",
month = aug,
day = "1",
language = "English",
volume = "2",
pages = "433--41",
journal = "MOL CANCER RES",
issn = "1541-7786",
publisher = "American Association for Cancer Research Inc.",
number = "8",

}

RIS

TY - JOUR

T1 - Somatic mitochondrial DNA mutations in neurofibromatosis type 1-associated tumors

AU - Kurtz, Andreas

AU - Lueth, Maria

AU - Kluwe, Lan

AU - Zhang, Tingguo

AU - Foster, Rosemary

AU - Mautner, Victor-Felix

AU - Hartmann, Melanie

AU - Tan, Duan-Jun

AU - Martuza, Robert L

AU - Friedrich, Reinhard E

AU - Driever, Pablo Hernáiz

AU - Wong, Lee-Jun C

PY - 2004/8/1

Y1 - 2004/8/1

N2 - Neurofibromatosis type 1 is an autosomal dominantly inherited disease predisposing to a multitude of tumors, most characteristically benign plexiform neurofibromas and diffuse cutaneous neurofibromas. We investigated the presence and distribution of somatic mitochondrial DNA (mtDNA) mutations in neurofibromas and in nontumor tissue of neurofibromatosis type 1 patients. MtDNA alterations in the entire mitochondrial genome were analyzed by temporal temperature gradient gel electrophoresis followed by DNA sequencing. Somatic mtDNA mutations in tumors were found in 7 of 19 individuals with cutaneous neurofibromas and in 9 of 18 patients with plexiform neurofibromas. A total of 34 somatic mtDNA mutations were found. All mutations were located in the displacement loop region of the mitochondrial genome. Several plexiform neurofibromas from individual patients had multiple homoplasmic mtDNA mutations. In cutaneous neurofibromas, the same mtDNA mutations were always present in tumors from different locations of the same individual. An increase in the proportion of the mutant mtDNA was always found in the neurofibromas when compared with nontumor tissues. The somatic mtDNA mutations were present in the Schwann cells of the analyzed multiple cutaneous neurofibromas of the same individual. The observed dominance of a single mtDNA mutation in multiple cutaneous neurofibromas of individual patients indicates a common tumor cell ancestry and suggests a replicative advantage rather than random segregation for cells carrying these mutated mitochondria.

AB - Neurofibromatosis type 1 is an autosomal dominantly inherited disease predisposing to a multitude of tumors, most characteristically benign plexiform neurofibromas and diffuse cutaneous neurofibromas. We investigated the presence and distribution of somatic mitochondrial DNA (mtDNA) mutations in neurofibromas and in nontumor tissue of neurofibromatosis type 1 patients. MtDNA alterations in the entire mitochondrial genome were analyzed by temporal temperature gradient gel electrophoresis followed by DNA sequencing. Somatic mtDNA mutations in tumors were found in 7 of 19 individuals with cutaneous neurofibromas and in 9 of 18 patients with plexiform neurofibromas. A total of 34 somatic mtDNA mutations were found. All mutations were located in the displacement loop region of the mitochondrial genome. Several plexiform neurofibromas from individual patients had multiple homoplasmic mtDNA mutations. In cutaneous neurofibromas, the same mtDNA mutations were always present in tumors from different locations of the same individual. An increase in the proportion of the mutant mtDNA was always found in the neurofibromas when compared with nontumor tissues. The somatic mtDNA mutations were present in the Schwann cells of the analyzed multiple cutaneous neurofibromas of the same individual. The observed dominance of a single mtDNA mutation in multiple cutaneous neurofibromas of individual patients indicates a common tumor cell ancestry and suggests a replicative advantage rather than random segregation for cells carrying these mutated mitochondria.

KW - Base Sequence

KW - DNA Mutational Analysis

KW - DNA, Mitochondrial

KW - Genes, Neurofibromatosis 1

KW - Germ-Line Mutation

KW - Humans

KW - Mutation

KW - Neurofibromatosis 1

KW - Skin

M3 - SCORING: Journal article

C2 - 15328370

VL - 2

SP - 433

EP - 441

JO - MOL CANCER RES

JF - MOL CANCER RES

SN - 1541-7786

IS - 8

ER -