نتایج جستجو برای: ndna and mtdna mutations

تعداد نتایج: 16853737  

2013
Amanda Ramos Cristina Santos Ligia Mateiu Maria del Mar Gonzalez Luis Alvarez Luisa Azevedo António Amorim Maria Pilar Aluja

Determining the levels of human mitochondrial heteroplasmy is of utmost importance in several fields. In spite of this, there are currently few published works that have focused on this issue. In order to increase the knowledge of mitochondrial DNA (mtDNA) heteroplasmy, the main goal of this work is to investigate the frequency and the mutational spectrum of heteroplasmy in the human mtDNA geno...

2014
Holly L Baines Douglass M Turnbull Laura C Greaves

A decline in the replicative and regenerative capacity of adult stem cell populations is a major contributor to the aging process. Mitochondrial DNA (mtDNA) mutations clonally expand with age in human stem cell compartments including the colon, small intestine, and stomach, and result in respiratory chain deficiency. Studies in a mouse model with high levels of mtDNA mutations due to a defect i...

Journal: :Medical hypotheses 2015
Yucai Chen W Davis Parker Hongyi Chen Kunfang Yang

Accumulations of mitochondrial DNA (mtDNA) mutations associated with aging are evident in multiple human tissues. The role of mtDNA mutations can be observed in an aging animal model such as homozygous knock-in PolgA mice, which have a large colonial expansion of mtDNA mutations. They develop reduced lifespan and premature onset of age-related phenotypes, that are also observed in clinical prac...

Journal: :Cukurova Medical Journal 2023

Dear Editor;
 We read with interest the article titled “CYB mtDNA mutations and expression status of genes in PI3K/AKT/mTOR signaling pathway patients schizophrenia” published Cukurova Medical Journal by Dirican et al.

Journal: :Forensic science international 2006
Manuel Crespillo Miguel R Paredes Lourdes Prieto Marta Montesino Antonio Salas Cristina Albarran V Alvarez-Iglesias Antonio Amorin Gemma Berniell-Lee Antonio Brehm Juan C Carril Daniel Corach Nerea Cuevas Ana M Di Lonardo Christian Doutremepuich Rosa M Espinheira Marta Espinoza Felix Gómez Alberto González Alexis Hernández M Hidalgo Magda Jimenez Fabio P N Leite Ana M López Manuel López-Soto Jose A Lorente Shintia Pagano Ana M Palacio José J Pestano Maria F Pinheiro Eduardo Raimondi M M Ramón Florangel Tovar Lidia Vidal-Rioja Maria C Vide Martín R Whittle Juan J Yunis Julia Garcia-Hirschfel

We report here a review of the seventh mitochondrial DNA (mtDNA) exercise undertaken by the Spanish and Portuguese working group (GEP) of the International Society for Forensic Genetics (ISFG) corresponding to the period 2003-2004. Five reference bloodstains from five donors (M1-M5), a mixed stain of saliva and semen (M6), and a hair sample (M7) were submitted to each participating laboratory f...

2018

Mitochondrial diseases in humans [5] result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemost...

2018

Mitochondrial diseases in humans [5] result when the small organelles called mitochondria, which exist in all human cells, fail to function normally. The mitochondria contain their own mitochondrial DNA (mtDNA) separate from the cell's nuclear DNA (nDNA). The main function of mitochondria is to produce energy for the cell. They also function in a diverse set of mechanisms such as calcium hemost...

2015
Zhaoxi Wang Sojung Choi Jinseon Lee Yen-Tsung Huang Feng Chen Yang Zhao Xihong Lin Donna Neuberg Jhingook Kim David C Christiani

Mutations in the mtDNA genome have long been suspected to play an important role in cancer. Although most cancer cells harbor mtDNA mutations, the question of whether such mutations are associated with clinical prognosis of lung cancer remains unclear. We resequenced the entire mitochondrial genomes of tumor tissue from a population of 250 Korean patients with non-small cell lung cancer (NSCLC)...

Journal: :Human Biology 2022

A number of recent articles have appeared on the hominin Denisova fossil remains. Many them focus attempts to produce DNA sequences from extracted samples. Often these project mitochondrial (mtDNA) fossils a Neandertals and Denisovans in an attempt understand evolution Middle Pleistocene human ancestors. These introduce problems interpretation speciation hominins. One concerns degradation ancie...

Journal: :Frontiers in bioscience 2016
Sung Ryul Lee Nari Kim Yeun Hee Noh Zhelong Xu Kyung Soo Ko Byoung Doo Rhee Jin Han

Mitochondria, are the powerhouses of cells, have their own DNA (mtDNA), regulate the transport of metabolites and ions, and impact cell physiology, survival, and death. Mitochondrial dysfunction, including impaired oxidative phosphorylation, preferentially affects heart function due to an imbalance of energy supply and demand. Recently, mitochondrial mutations and associated mitochondrial dysfu...

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