Profiling of length heteroplasmies in the human mitochondrial DNA control regions from blood cells in the Korean population

Electrophoresis
Myung-Geun ShinDong Wook Ryang

Abstract

The length heteroplasmies in the hypervariable (HV) regions of mitochondrial DNA (mtDNA) from blood cells were examined in 57 healthy Korean donors. Interestingly, all the healthy Korean subjects displayed length heteroplasmies in both the HV1 and HV2 regions. Closer examination of the HV2 length heteroplasmies indicated that most of these donors (84%) exhibited a minimal 303-315 homopolymeric C (poly-C) tract frameshift of 1 bp (mixture of one major and minor mtDNA type). Sixteen percent of the donors however had poly-C tract frameshifts of 2 bp or more. The donor group with major length variants (two or more frameshifts) had about a two-fold decrease in mtDNA copy number compared with the group exhibiting only a 1 bp frameshift. This result supports the possibility that a severe frameshift in the 303-315 poly-C tract may also cause the impairment of mtDNA replication in hematopoietic tissue.

References

Sep 15, 1996·Nucleic Acids Research·J ClineH H Hogrefe
Oct 29, 1996·Proceedings of the National Academy of Sciences of the United States of America·E E JazinU Gyllensten
Sep 9, 2000·Forensic Science International : Synergy·C MeissnerM Oehmichen
Nov 24, 2001·Mechanisms of Ageing and Development·Glenn S GerhardChristopher D Gocke
Nov 26, 2002·Blood·Myung Geun ShinNeal S Young
Feb 13, 2003·Proceedings of the National Academy of Sciences of the United States of America·Elizabeth MamboDavid Sidransky
Jun 27, 2003·The New England Journal of Medicine·Salvatore DiMauro, Eric A Schon
Jan 20, 2004·Electrophoresis·Hwan Young LeeKyoung-Jin Shin
Feb 12, 2004·Clinical Cancer Research : an Official Journal of the American Association for Cancer Research·Moying TangIgnacio I Wistuba
Mar 24, 2004·Experimental Gerontology·S A MohamedC Meissner

❮ Previous
Next ❯

Citations

May 29, 2007·Journal of Clinical Pathology·Hyung-Wook ParkHye-Ran Kim
Dec 29, 2015·Annals of Laboratory Medicine·Min-Gu KangMyung-Geun Shin
Dec 24, 2015·Journal of the Formosan Medical Association = Taiwan Yi Zhi·James Chun-I LeeHsing-Mei Hsieh
Jun 24, 2010·Journal of Forensic and Legal Medicine·H Afonso CostaF Corte-Real
May 12, 2009·Mitochondrion·Sang-Young ParkDong-Wook Ryang
Jul 25, 2007·Forensic Science International : Synergy·Masaru AsariHiroshi Shiono
Nov 29, 2011·International Journal of Cancer. Journal International Du Cancer·Sang Woo LimMyung Geun Shin
Mar 6, 2010·Journal of Forensic Sciences·Seung B SeoSoong D Lee
Mar 19, 2013·Biology of Blood and Marrow Transplantation : Journal of the American Society for Blood and Marrow Transplantation·Eun Jeong WonMyung Geun Shin

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.