Dr. Qing-Peng Kong, Professor, Kunming Institute of Zoology, Chinese Academy of Sciences. My laboratory is mainly interested in the following fields: (1) mtDNAphylogenomics in Asia (especially Eastern Asia) and reconstructing the prehistory of Asian populations by using multiple genetic markers; (2) understanding the genetic basis of longevityand major disease.
1. Absence of A673T variant in APP gene in Chinese longevity individuals
Alzheimer’s disease (AD) is a disease characterized by central nervous system degeneration that produces progressive memory impairment, cognitive dysfunction, personality changes, and linguistic difﬁculties, and other neuropsychiatric symptoms. Previous studies suggested that mutations in the APP exons 16 and 17, encoding the β-amyloid peptide (Aβ), contributed to occurrence of the disease . However, a recently observed rare mutation A673T in APP exon 16 was suggested to significantly reduce the generation of harmful β-amyloid, thereby decreasing the occurrence of AD and the elderly cognitive decline in Icelander population. To test whether the A673T contributes to Chinese population, 1,237 healthy longevity individuals (mean age 96.9) and 1,404 matched younger controls (mean age 44.2) were collected and genotyped for the variant. Our study failed to observe this variant in either the longevity subjects or the controls. Given the previous observation from Asians, our result suggests that the A673T variant was not involved in the longevity in Chinese; some otherprotective mechanisms may contribute to lower incidence of AD in Chinese centenarians. （Neurobiology of Aging，2014）
2. Investigation of a relationship between mtDNA content and climate adaption
We analyze the distribution of mtDNA content among 27 Chinese ethnic populations residing across China and find a significant association between mtDNA content and climate, with northern populations having significantly higher mtDNA content than southern populations. Functional studies have shown that high mtDNA content correlates with anncrease in the expression of energy metabolism enzymes, which may accelerate thermogenesis. This suggests that the significantly higher mtDNA content observed in northern populations may confer a
selective advantage in adapting to
colder northern climates.
3. Effect of mitochondrial DNA content on healthy aging of long lived individuals
Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function. A decline in the mtDNA content and subsequent dysfunction cause various senile diseases, with decreasing mtDNA content observed in the elderly with age-related diseases. In contrast, the oldest olds, e.g. centenarians, have a delayed or reduced prevalence of these diseases, suggesting centenarians may have a different pattern of the mtDNA content, enabling them to keep normal mitochondrial functions to help delay or escape senile diseases. To test this hypothesis, a total of 961 subjects, consisting of 424 longevity subjects and 537 younger controls from Hainan and Sichuan provinces of China, were recruited for this study. The mtDNA content was found to be inversely associated with age among age group 40-70. Surprisingly, no reduction of mtDNA content was observed in nonagenarians and centenarians; instead, these oldest old showed a significant increase than the elderly people aged between 50 and 70. The results suggest the higher mtDNA content may convey a beneficial effect to the longevity people through assuring sufficient energy supply.
1. Liu Y-W, He Y-H, Zhang Y-X, Cai W-W*, Yang L-Q, Xu L-Y, Kong Q-P* (2013) Absence of A673T variant in APP gene indicates an alternative protective mechanism contributing to longevity in Chinese. Neurobiology of Aging (In press).
2. Cheng Y-T, Liu J, Yang L-Q, Sun C, Kong Q-P*(2013) Mitochondrial DNA content contributes to climate adaptation in Chinese populations. PLoSONE8(11):e79536.
3. Li R-L, Wang H-W, Yang L-Q, Zhang B-M, Li Y-J, Hu J-S, Kong Q-P* (2013) The whole mitochondrial genome of the Cynomolgus macaque (Macacafascicularis). Mitochondrial DNA(online).
4. He Y-H, Lu X, Cai W-W*, Yang L-Q, Xu L-Y, Sun H-P, Kong Q-P* (2013)Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians. Neurobiology of Aging (In press).
5. He Y-H, Zhang Y-X, Yang L-Q, Liao X-P, Zhang Q-Y, Cai W-W*, Kong Q-P* (2013) Assessment of the health status of centenarians in the South of China: a cross-sectional study. Journal of the American Geriatrics Society(In press).
6. Liu J, Xu L-Y, Li R-L, Li E-M*, Kong Q-P*(2013) Evaluating the susceptibility of mitochondrial DNA germline mutations in Chinese cancer patients. Current Molecular Medicine (In press).
7. Zhong L, Tang J, Kong Q-P*, Sun C, Zhou W-P, Yang M, Yao Y-G, Zhang Y-P* (2013) Reappraising the relationship between mitochondrial DNA variant m.16189T>C and type 2 diabetes mellitus in East Asian populations. Current Molecular Medicine (In press).