People have achieved an even longer average life-span nowadays with the society
and medical technique development, thus more and more countries have to face
the problems brought by the aging population. Because of the inherited trends of
human longevity, lots of scientists have paid much attention to the mechanisms of
human longevity and age-related diseases for the propose of helping people to
have a much more happier and healthier lives in their gray-headed years without
been disturbed by age-related diseases or delay the onset time of these diseases.
Mitochondrion is an organelle of great importance in eukaryotic cell and with a
circular DNA molecule of ~16,569 base pairs. Human longevity and age-related
diseases have been associated with mitochondrial DNA (mtDNA) coding region
and non-coding region polymorphisms in previous studies especially in Europeans.
Enrichment of mtDNA non-coding region C150T mutation, which was reported
changing the replication origin of mtDNA heavy chain, has been detected in some
longevous populations.
Therefore, we set out to explore the possible association between the mtDNA noncoding
region polymorphism and longevity in Han Chinese. A total of
556unrelated longevous individuals (202 males and 356 females aged 90-
108years), 214family controls aged 10-69 years and 312 unrelated controls aged
22-73 years were recruited from Dujiangyan city of Sichuan province and selfidentified
as being Han Chinese. Total DNA extracted from blood samples was
analyzed and mtDNA haplogroups were determined by sequencing mtDNA
control regions and RFLPs in coding regions. Pearson Chi-Square analysis revealed that the three groups in current study had
similar mtDNA genetic backgrounds and showed no differences in the overall
haplogroup frequencies (p=0.318). Our results did not show a universal
association between the mtDNA C150T mutation and longevity across all groups.
Even when mtDNA haplogroups defined by C150T and gender were taken into
account, there was no significant association with longevity. Additionally, other
four mtDNA non-coding region mutations: 146, 152, 189 and 195 also could not
display relationships with human longevity. Our conclusion could not support
previous associations gained in longevous populations from Europe and Japan.
It is the first report of an association study between mtDNA non-coding region
polymorphisms and human longevity in Han Chinese population by our
knowledge. Functional studies on mtDNA variants are required, which will help
further our understanding of the true relationships between mtDNA and human
longevity.
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