North American White Mitochondrial Haplogroups in Prostate and Renal Cancer

Booker, Lyra M.; Habermacher, Geoffrey; Jessie, Benjamin C.; Sun, Qi; Baumann, Amanda K.; Amin, Mahul B.; Lim, So Dug; Fernandez-Golarz, Carina; Lyles, Robert H.; Brown, Michael D.; Marshall, Fray F.; Petros, John A.

doi:10.1016/s0022-5347(05)00163-1

Cited by 128 publications

(108 citation statements)

References 16 publications

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“…It is very likely that mtDNA mutation, deletion or depletion might induce the changes which Warburg hypothesized. Additionally, since the inheritance of mitochondrial haplotype U is associated with approximately 2 -fold increased risk of prostate cancer and 2.5-fold increased risk of renal cancer in white North America individuals (Booker et al, 2006), mtDNA definitely affects initiation of cancer. Growth advantage of the cancer cells with specific mutant mtDNA were also demonstrated in vivo mouse model system using cybrid (transmitochondrial hybrid) cells (Petros et al, 2005;Shidara et al, 2005), indicating that specific mutations of mtDNA give advantage of survival to cancer cells.…”

Section: Introductionmentioning

confidence: 99%

Regulation of mitochondrial DNA content and cancer

Higuchi

2007

Mitochondrion

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Enzymatic activities of the proteins encoded in nuclear genome are regulated by transcriptional, translational and post-transcriptional level. Enzymatic activities of proteins encoded in mitochondrial DNA (mtDNA) have been considered to be regulated by the same steps although detailed mechanisms might differ. However, dynamic change of the number of mtDNA, from some hundred to more than ten thousand, should be considered as another novel mechanism to regulate mtDNA-encoded proteins. Recently, we showed the connection of mtDNA depletion and deletion to cancer progression (Higuchi et al., 2006). This review focuses and describes the possible connections of the mitochondrial DNA depletion and deletion to cancer.

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Section: Introductionmentioning

confidence: 99%

Regulation of mitochondrial DNA content and cancer

Higuchi

2007

Mitochondrion

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“…For statistical analysis, two groups of controls were used: the Southeastern United States regional controls (n ϭ 246) 26 and a global control group (n ϭ 2645). Although the mtDNA haplogroup distribution in these two groups is essentially identical (no variation upon statistical comparison), the difference in sample size raised the possibility that the two groups would have yielded different statistical results when compared to our patient groups.…”

Section: Discussionmentioning

confidence: 99%

“…25,26 All individuals not unambiguously testing positive for any of the above nine haplogroups were classified as "other. "…”

Section: Opa1 Mutation Confirmationmentioning

confidence: 99%

“…We were able to assign all but one patient to one of the nine mtDNA lineages (haplogroups H,I,J,K,T,U,V,W and X) that account for essentially all European-derived individuals (Table 5). We then compared the distribution of mtDNA lineages between controls (using both 2645 global Caucasian con- trols from the literature and also 246 regional Caucasian controls from the Southeastern United States, as described in Booker et al, 26 and ADOA patients (total patient group and OPA1-negative patients). OPA1-positive patients were not included in the comparative analysis since only five of our OPA1-positive patients were Caucasian, thus severely limiting statistical power.…”

Section: Mtdna Haplotypes In Adoa Patientsmentioning

confidence: 99%

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OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

Han¹,

Thompson-Lowrey²,

Reiss³

et al. 2006

Genetics in Medicine

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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.

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“…It is likely that mtDNA mutation, deletion, or depletion induces the changes hypothesized by Warburg. The inheritance of mitochondrial haplotype U is associated with an approximately 2-fold increase in prostate cancer risk and a 2.5-fold increase in renal cancer risk in white, North American individuals [4], suggesting that mtDNA may affect cancer development. Interestingly, mutation of mtDNA in the D-loop region appears to be an indicator of poor prognosis in colorectal cancer patients and of resistance to fluorouracil-based adjuvant chemotherapy in stage III colon cancers [5].…”

Section: Introductionmentioning

confidence: 99%

Constitutive activation of AKT pathway inhibits TNF-induced apoptosis in mitochondrial DNA-deficient human myelogenous leukemia ML-1a

et al. 2008

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TNF plus protein synthesis inhibitor cycloheximide induced apoptosis in human myelogenous leukemia ML-1a but not in C19, respiration minus mitochondrial DNA deficient C19 cells, derived from ML-1a. To investigate how mitochondrial DNA depletion inhibits apoptosis, we investigated AKT. Both AKT and its phosphorylated form were observed only in C19, indicating that depletion of mtDNA increased protein and the active form of AKT. Treatment of C19 with LY294002, which inhibits PI-3 kinase and inhibits AKT, significantly increased apoptosis induction by TNF plus cycloheximide and eliminated phosphorylation of AKT. These results indicate that AKT activation was induced by the depletion of mtDNA and inhibited TNF-induced apoptosis.

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North American White Mitochondrial Haplogroups in Prostate and Renal Cancer

Cited by 128 publications

References 16 publications

Regulation of mitochondrial DNA content and cancer

Regulation of mitochondrial DNA content and cancer

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

Constitutive activation of AKT pathway inhibits TNF-induced apoptosis in mitochondrial DNA-deficient human myelogenous leukemia ML-1a

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