Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

Niemi, Anna-Kaisa; Hervonen, Antti; Hurme, Mikko; Karhunen, Pekka J.; Jylhä, Marja; Majamaa, Kari

doi:10.1007/s00439-002-0843-y

Cited by 225 publications

(177 citation statements)

References 22 publications

Supporting

Mentioning

162

Contrasting

Order By: Relevance

“…Some controversial associations of haplogroup J with other diseases, such as an increased penetrance of the milder complex I gene mutations associated with Leber's hereditary optic neuropathy (LHON) (22,42), an increased susceptibility to multiple sclerosis (43), and an association of cluster TJ with type 2 diabetes mellitus (28), have been described. Interestingly, haplogroup J has also been associated with a decreased risk of Parkinson's disease (26) and with increased longevity in several European studies (31,32,33). Haplogroup J mtDNA harbors several missense mutations (Table 5) in both complex I and cytochrome b genes that could alter the oxidative phosphorylation production of ATP (44,45).…”

Section: Discussionmentioning

confidence: 99%

“…Among Europeans, 95% of the population belongs to 1 of 9 haplogroups: H, I, J, K, T, U, V, W, or X. Given the lines of evidence that describe the contribution of mtDNA to cellular physiology, as well as its critical importance for energy production, a number of studies have investigated the association between mtDNA haplogroups and multifactorial diseases (22)(23)(24)(25)(26)(27)(28), mitochondrial diseases (29,30), and aging (31)(32)(33).…”

mentioning

confidence: 99%

See 1 more Smart Citation

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Rego‐Pérez¹,

Fernández-Moreno²,

Fernández-López³

et al. 2008

Arthritis & Rheumatism

View full text Add to dashboard Cite

Objective. Some studies indicate that the mitochondrion is implicated in osteoarthritis (OA). To test the hypothesis that mitochondrial DNA (mtDNA) haplogroups contribute to the prevalence and severity of knee OA, we analyzed the European mtDNA haplogroups in a Spanish population of patients with knee OA and healthy control subjects.Methods. We combined the single-base extension assay with the polymerase chain reaction-restriction fragment length polymorphism technique to obtain the different single-nucleotide polymorphisms that characterize the European haplogroups in 457 patients with knee OA and 262 radiologic controls. Knee OA radio-

show abstract

Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Rego‐Pérez¹,

Fernández-Moreno²,

Fernández-López³

et al. 2008

Arthritis & Rheumatism

View full text Add to dashboard Cite

show abstract

“…De Benedictis et al, 1999;Niemi et al, 2003;Tanaka et al, 2000) and degenerative disease (Wallace, 2005). Hence, certain mtDNA lineages from Europe and Asia are protective against the ravages of aging but are population specific.…”

Section: Accepted M Manuscriptmentioning

confidence: 99%

The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians

Pliss

Brakmanis

Ranka

et al. 2011

Experimental Gerontology

View full text Add to dashboard Cite

To cite this version:This is a PDF file of an unedited manuscript that has been accepted for publication. As a service to our customers we are providing this early version of the manuscript. The manuscript will undergo copyediting, typesetting, and review of the resulting proof before it is published in its final form. Please note that during the production process errors may be discovered which could affect the content, and all legal disclaimers that apply to the journal pertain. A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT A C C E P T E D M A N U S C R I P T ACCEPTED MANUSCRIPT AbstractVarious studies have demonstrated that mitochondrial DNA (mtDNA) heteroplasmy tends to increase with age and that the observed frequency of heteroplasmy among populations mostly depends on the way it is measured. Therefore, we investigated age-related association on the presence of mtDNA heteroplasmy within the hypervariable segment 1 (HVS-I) in a selected study group. The study group consisted of 300 maternally unrelated Latvians ranging in age from 18 to over 90 years. To determine the optimal method for mtDNA heteroplasmy detection, three The results indicate that heteroplasmy in HVS-I is relatively common and occurs in a broad spectrum of sites. The above is supported by evidence to eventual increase of the probability of heteroplasmy with age due to specific mitochondrial haplogroup background. Research HighlightsThe results indicate that heteroplasmy in HVS-I is relatively common and occurs in a broad spectrum of sites. Consequently, a strong association is found to exist between the mtDNA heteroplasmy and ageing in the studied population.We found that the Denaturing Gradient Gel Electrophoresis (DGGE) and the SURVEYOR TM Mutation Detection Kit assay exhibited a lower limit of detection (LOD) of mtDNA heteroplasmy and revealed the presence of heteroplasmy at the already existing 1% and 5% occurrence in the sample.

show abstract

“…Haplogroup J has also been implicated as a genetic modifier for a number of other disorders including Parkinson disease, [31][32][33][34] multiple sclerosis with and without optic neuritis, 35,36 and aging. [37][38][39] For LHON, the mutation-haplogroup associations appear real, but the origins of any association as well as the molecular mechanisms describing such genomic interactions remain unclear.…”

Section: Mtdna Haplotypes As a Genetic Modifiermentioning

confidence: 99%

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

Han¹,

Thompson-Lowrey²,

Reiss³

et al. 2006

Genetics in Medicine

View full text Add to dashboard Cite

Purpose: Autosomal dominant optic atrophy is a form of blindness, due in part to mutations affecting the mitochondrial-targeted OPA1 gene product. Both OPA1-positive and OPA1-negative families exhibit variable expressivity and incomplete penetrance. The purpose of this study was therefore to determine if the background mtDNA genotype acts as a genetic modifier for the expression of this disease. Methods: To find novel pathogenic OPA1 mutations, we performed complete OPA1 gene exon sequencing in 30 patients. To assess the possibility that mitochondrial DNA haplotype acts as a genetic modifier, we determined the mitochondrial DNA haplotype in 29Caucasian OPA1-positive and OPA1-negative patients. Deviations in haplotype distribution between patient and control groups were determined by statistical means. Results: Seven new pathogenic OPA1 mutations were found.Most were detected in the mitochondrial targeting N-terminus or in the coiled-coil domain at the C-terminus.Mitochondrial DNA haplotype analysis indicated that the European haplogroup distribution was different between Caucasian patients and controls. Further, haplogroup J was three-fold over-represented in OPA1-negative patients.Conclusions: Overall, our results support haploinsufficiency as a genetic mechanism in OPA1-positive cases and also suggest that mtDNA genetic background may influence disease expression in a subset of cases. Genet Med 2006:8(4):217-225.

show abstract

Mitochondrial DNA polymorphisms associated with longevity in a Finnish population

Cited by 225 publications

References 22 publications

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

Mitochondrial DNA haplogroups: Role in the prevalence and severity of knee osteoarthritis

The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

Contact Info

Product

Resources

About