Extensive pathogenicity of mitochondrial heteroplasmy in healthy human individuals

K Ye, J Lu, F Ma, A Keinan… - Proceedings of the …, 2014 - National Acad Sciences
A majority of mitochondrial DNA (mtDNA) mutations reported to be implicated in diseases
are heteroplasmic, a status with coexisting mtDNA variants in a single cell. Quantifying the …

[PDF][PDF] Forensic mitochondria DNA analysis: current practice and future potential

T Melton, C Holland, M Holland - Forensic science review, 2012 - researchgate.net
Current practices for performing forensic mitochondrial DNA (mtDNA) sequence analysis, as
employed in public and private laboratories across the United States, have changed …

Mitochondria, its DNA and telomeres in ageing and human population

E Zole, R Ranka - Biogerontology, 2018 - Springer
In the last decades, studies about ageing have become more essential as our population
grows older. The incidence of age-related diseases increases, which pose challenges both …

Evidence for frequent and tissue-specific sequence heteroplasmy in human mitochondrial DNA

J Naue, S Hörer, T Sänger, C Strobl… - Mitochondrion, 2015 - Elsevier
Mitochondrial point heteroplasmy is a common event observed not only in patients with
mitochondrial diseases but also in healthy individuals. We here report a comprehensive …

Neutral mitochondrial heteroplasmy and the influence of aging

N Sondheimer, CE Glatz, JE Tirone… - Human molecular …, 2011 - academic.oup.com
The development and maintenance of mitochondrial heteroplasmy has important
consequences for both health and heredity. Previous studies using pathogenic mutations …

Frequency and pattern of heteroplasmy in the complete human mitochondrial genome

A Ramos, C Santos, L Mateiu, MM Gonzalez, L Alvarez… - PloS one, 2013 - journals.plos.org
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 …

Assessing heteroplasmic variant drift in the mtDNA control region of human hairs using an MPS approach

JM Gallimore, JA McElhoe, MM Holland - Forensic Science International …, 2018 - Elsevier
Resolution of mitochondrial (mt) DNA heteroplasmy is possible when applying a massively
parallel sequencing (MPS) approach. However, interpretation criteria for matching …

Mitochondrial genetic variants identified to be associated with posttraumatic stress disorder

A Flaquer, C Baumbach, KH Ladwig, J Kriebel… - Translational …, 2015 - nature.com
Despite the fact that mitochondrial dysfunctions are increasingly recognized as key
components in stress-related mental disorders, very little is known about the association …

Hairy matters: MtDNA quantity and sequence variation along and among human head hairs

S Desmyter, M Bodner, G Huber, S Dognaux… - Forensic Science …, 2016 - Elsevier
Hairs from the same donor have been found to differ in mtDNA sequence within and among
themselves and from other tissues, which impacts interpretation of results obtained in a …

Problems in Mitochondrial DNA forensics: while interpreting length heteroplasmy conundrum of various Sindhi and Baluchi ethnic groups of Pakistan

S Bhatti, M Aslam Khan, S Abbas… - … DNA Part A, 2018 - Taylor & Francis
The insight heterodox genetics of mtDNA infer new perspectives at the level of human
mitochondrial control region heteroplasmy, which is substantial in evolutionary as well as …