Mitochondrial Haplogroups Associated with Japanese Centenarians, Alzheimer’s Patients, Parkinson’s Patients, Type 2 Diabetes Patients, Healthy Non-Obese Young Males, and Obese Young Males

Toyo University, Ouragun Itakuracho, Gunma 374-0193, Japan.
Journal of Genetics and Genomics (Impact Factor: 3.59). 08/2009; 36(7):425-34. DOI: 10.1016/S1673-8527(08)60132-0
Source: PubMed


The relationships between five classes of Japanese people (i.e., 96 centenarians, 96 Alzheimer's disease (AD) patients, 96 Parkinson's disease (PD) patients, 96 type 2 diabetic (T2D) patients, and 96 healthy non-obese young males) and their mitochondrial single nucleotide polymorphism (mtSNP) frequencies at individual mtDNA positions of the entire mitochondrial genome were examined using the radial basis function (RBF) network and the modified method. New findings of mitochondrial haplogroups were obtained for individual classes. The five classes of people were associated with the following haplogroups: Japanese centenarians-M7b2, D4b2a, and B5b; Japanese AD patients-G2a, B4c1, and N9b1; Japanese PD patients-M7b2, B4e, and B5b; Japanese T2D patients-B5b, M8a1, G, D4, and F1; and Japanese healthy non-obese young males- D4g and D4b1b. From the points of common haplogroups among the five classes, the centenarians have the common haplogroups M7b2 and B5b with the PD patients and common haplogroup B5b with the T2D patients. In addition, the 112 Japanese semi-supercentenarians (over 105 years old) recently reported were also examined by the method proposed. The results obtained were the haplogroups D4a, B4c1a, M7b2, F1, M1, and B5b. These results are different from the previously reported haplogroup classifications. As the proposed analysis method can predict a person's mtSNP constitution and the probabilities of becoming a centenarian, AD patient, PD patient, or T2D patient, it may be useful in initial diagnosis of various diseases.

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    • "It has been found that some mtDNA haplotypes not only elucidate population structures, but may also predispose to, or protect against, certain diseases (Wallace, 2005). In fact, mtDNA haplotype studies have reported associations with several diseases such as Parkinson's disease (Takasaki, 2009), Alzheimer's disease (Santoro et al., 2010), hepatocellular carcinoma (Zhang et al., 2010), breast cancer (Bai et al., 2007), multiple sclerosis (Kalman et al., 1999), Leber's hereditary optic neuropathy (Koilkonda & Guy, 2011), and type 2 diabetes (Feder et al., 2009). Mitochondrial functional differences are thought to be among the most important risk factors of coronary artery diseases (CAD), including myocardial infarction (MI) (Nishigaki et al., 2007). "
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    ABSTRACT: Population origins and ancestry have previously been found to be important determinants of coronary artery disease (CAD). This study investigates associations of Lebanese mitochondrial DNA lineages with CAD and studies their correlation with other populations, exploring population structures that may infer mitochondria functional associations and reveal population movements and origins. Sequencing the mitochondrial hypervariable sequence 1 (HVS-1) of 363 controls and 448 cases revealed that haplogroup W was more frequent (P = 0.013) in cases compared to controls, and was associated with increased risk of CAD (OR = 5.50, 95% CI = 1.50-35.30, P = 0.026) among Lebanese samples. Haplogroup A was only found in controls (P = 0.029). We have detected stronger geographic correlation between haplogroup W and CAD (Pearson's r = 0.316, P < 0.001) than between haplogroup A and CAD (r = 0.149, P < 0.001). HVS-1 phylogenetic network of haplogroup W shows controls are restricted to European clusters while cases belong mostly to Middle Eastern natives. The network of haplogroup A shows that the controls belong to a cluster dominated by Central Asians. Our results show evidence of a gene flow into Lebanon, creating CAD-associated population structures that are similar to those in the source populations, maintained by limited admixture, and probably encompassing variations on the nuclear and/or the mitochondrial genome that are correlated with the disease.
    Annals of Human Genetics 01/2012; 76(1):1-8. DOI:10.1111/j.1469-1809.2011.00682.x · 2.21 Impact Factor
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    • "6 9 8 3 J T Q u e b e c ,C a n a d a Carrieri et al. [77] 213 179 age- matched and 210 individuals aged more than 100 years None K and U seem to neutralize the risk effect of the APOE ε4 allele Italy Van der Walt et al. [75] 989 328 U in males U in females Europe Pyle et al. [41] 185 447 None None United Kingdom Elson et al. [78] "
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    ABSTRACT: Mitochondria, the powerhouse of the cell, play a critical role in several metabolic processes and apoptotic pathways. Multiple evidences suggest that mitochondria may be crucial in ageing-related neurodegenerative diseases. Moreover, mitochondrial haplogroups have been linked to multiple area of medicine, from normal ageing to diseases, including neurodegeneration. Polymorphisms within the mitochondrial genome might lead to impaired energy generation and to increased amount of reactive oxygen species, having either susceptibility or protective role in several diseases. Here, we highlight the role of the mitochondrial haplogroups in the pathogenetic cascade leading to diseases, with special attention to Alzheimer's disease.
    International Journal of Alzheimer's Disease 02/2011; 2011(6099):709061. DOI:10.4061/2011/709061
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    • "Mitochondria are involved in the production and clearance of reactive oxygen species (ROS), and mutations of mitochondrial DNA (mtDNA) may result in energy deficiency and an increase in oxygen radicals. mtDNA haplogroups, which are determined by a series of characteristic variations and were formed during the origin and migration of modern humans, have been shown to play active roles in several neurodegenerative diseases, including Alzheimer disease [4,5], Parkinson disease [6], and multiple sclerosis [7], despite some of the original claims not being repeated in subsequent studies [8]. In the eye, mtDNA haplogroups have been reported to affect the clinical expression of Leber hereditary optic neuropathy (LHON) in European [9] and Chinese families [10], age-related macular degeneration [11,12], and optic neuritis [13]. "
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    ABSTRACT: Mitochondrial DNA (mtDNA) haplogroups affect the clinical expression of Leber hereditary optic neuropathy, age-related macular degeneration, and other diseases. The objective of this study is to investigate whether an mtDNA background is associated with myopia. Blood DNA was obtained from 192 college students, including 96 individuals with moderate-to-high myopia and 96 controls without myopia. All the subjects were from a well-known isolated population living in the Chaoshan area of east Guangdong Province and speaking one of the four major dialects in southern China. The mtDNA haplogroups in the 192 subjects were determined by sequencing the mtDNA control region and partial coding regions as well as by analysis of restriction fragment length polymorphisms. Each mtDNA was classified according to the updated version of the Eastern Asian haplogroup system. Sixteen mtDNA haplogroups were recognized in the 192 subjects. The overall matrilineal structures of the samples with and without myopia were similar and had genetic imprints showing their ethno-origin. There was no statistical difference in frequencies of haplogroup distribution between subjects with and without myopia (chi(2) test, p=0.556). We failed to identify clues that suggest an involvement of mtDNA background in the predisposition to myopia.
    Molecular vision 02/2010; 16:303-9. · 1.99 Impact Factor
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