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Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study

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Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study. / Rose, Giuseppina; Romeo, Giuseppe; Dato, Serena; Crocco, Paolina; Bruni, Amalia C; Hervonen, Antti; Majamaa, Kari; Sevini, Federica; Franceschi, Claudio; Passarino, Giuseppe; GEnetics of Healthy Ageing Project Consortium; Kristensen, Peter; Bolund, Lars.

I: P L o S One, Bind 5, Nr. 10, 14.10.2010, s. e13395.

Publikation: Bidrag til tidsskrift/Konferencebidrag i tidsskrift /Bidrag til avisTidsskriftartikelForskningpeer review

Harvard

Rose, G, Romeo, G, Dato, S, Crocco, P, Bruni, AC, Hervonen, A, Majamaa, K, Sevini, F, Franceschi, C, Passarino, G, GEnetics of Healthy Ageing Project Consortium, Kristensen, P & Bolund, L 2010, 'Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study', P L o S One, bind 5, nr. 10, s. e13395. https://doi.org/10.1371/journal.pone.0013395

APA

Rose, G., Romeo, G., Dato, S., Crocco, P., Bruni, A. C., Hervonen, A., Majamaa, K., Sevini, F., Franceschi, C., Passarino, G., GEnetics of Healthy Ageing Project Consortium, Kristensen, P., & Bolund, L. (2010). Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study. P L o S One, 5(10), e13395. https://doi.org/10.1371/journal.pone.0013395

CBE

Rose G, Romeo G, Dato S, Crocco P, Bruni AC, Hervonen A, Majamaa K, Sevini F, Franceschi C, Passarino G, GEnetics of Healthy Ageing Project Consortium, Kristensen P, Bolund L. 2010. Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study. P L o S One. 5(10):e13395. https://doi.org/10.1371/journal.pone.0013395

MLA

Vancouver

Author

Rose, Giuseppina ; Romeo, Giuseppe ; Dato, Serena ; Crocco, Paolina ; Bruni, Amalia C ; Hervonen, Antti ; Majamaa, Kari ; Sevini, Federica ; Franceschi, Claudio ; Passarino, Giuseppe ; GEnetics of Healthy Ageing Project Consortium ; Kristensen, Peter ; Bolund, Lars. / Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study. I: P L o S One. 2010 ; Bind 5, Nr. 10. s. e13395.

Bibtex

@article{fde2f6690d4f4ec8b6b5eac13196c4de,
title = "Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study",
abstract = "Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions.",
author = "Giuseppina Rose and Giuseppe Romeo and Serena Dato and Paolina Crocco and Bruni, {Amalia C} and Antti Hervonen and Kari Majamaa and Federica Sevini and Claudio Franceschi and Giuseppe Passarino and {GEnetics of Healthy Ageing Project Consortium} and Peter Kristensen and Lars Bolund",
year = "2010",
month = oct,
day = "14",
doi = "10.1371/journal.pone.0013395",
language = "English",
volume = "5",
pages = "e13395",
journal = "P L o S One",
issn = "1932-6203",
publisher = "public library of science",
number = "10",

}

RIS

TY - JOUR

T1 - Somatic point mutations in mtDNA control region are influenced by genetic background and associated with healthy aging: a GEHA study

AU - Rose, Giuseppina

AU - Romeo, Giuseppe

AU - Dato, Serena

AU - Crocco, Paolina

AU - Bruni, Amalia C

AU - Hervonen, Antti

AU - Majamaa, Kari

AU - Sevini, Federica

AU - Franceschi, Claudio

AU - Passarino, Giuseppe

AU - GEnetics of Healthy Ageing Project Consortium

AU - Kristensen, Peter

AU - Bolund, Lars

PY - 2010/10/14

Y1 - 2010/10/14

N2 - Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions.

AB - Tissue specific somatic mutations occurring in the mtDNA control region have been proposed to provide a survival advantage. Data on twins and on relatives of long-lived subjects suggested that the occurrence/accumulation of these mutations may be genetically influenced. To further investigate control region somatic heteroplasmy in the elderly, we analyzed the segment surrounding the nt 150 position (previously reported as specific of Leukocytes) in various types of leukocytes obtained from 195 ultra-nonagenarians sib-pairs of Italian or Finnish origin collected in the frame of the GEHA Project. We found a significant correlation of the mtDNA control region heteroplasmy between sibs, confirming a genetic influence on this phenomenon. Furthermore, many subjects showed heteroplasmy due to mutations different from the C150T transition. In these cases heteroplasmy was correlated within sibpairs in Finnish and northern Italian samples, but not in southern Italians. This suggested that the genetic contribution to control region mutations may be population specific. Finally, we observed a possible correlation between heteroplasmy and Hand Grip strength, one of the best markers of physical performance and of mortality risk in the elderly. Our study provides new evidence on the relevance of mtDNA somatic mutations in aging and longevity and confirms that the occurrence of specific point mutations in the mtDNA control region may represent a strategy for the age-related remodelling of organismal functions.

U2 - 10.1371/journal.pone.0013395

DO - 10.1371/journal.pone.0013395

M3 - Journal article

C2 - 20976236

VL - 5

SP - e13395

JO - P L o S One

JF - P L o S One

SN - 1932-6203

IS - 10

ER -