New mtDNA association model, MutPred variant load, suggests individuals with multiple mildly deleterious mtDNA variants are more likely to suffer from …
A Piotrowska-Nowak, JL Elson… - Frontiers in …, 2019 - frontiersin.org
The etiology of common complex diseases is multifactorial, involving both genetic, and
environmental factors. A role for mitochondrial dysfunction and mitochondrial DNA (mtDNA) …
environmental factors. A role for mitochondrial dysfunction and mitochondrial DNA (mtDNA) …
Clinical and laboratory interpretation of mitochondrial mRNA variants
LJC Wong, T Chen, ES Schmitt, J Wang… - Human …, 2020 - Wiley Online Library
Abstract Interpretation of mitochondrial protein‐encoding (mt‐mRNA) variants has been
challenging due to mitochondrial characteristics that have not been addressed by American …
challenging due to mitochondrial characteristics that have not been addressed by American …
A broad comparative genomics approach to understanding the pathogenicity of Complex I mutations
Disease caused by mutations of mitochondrial DNA (mtDNA) are highly variable in both
presentation and penetrance. Over the last 30 years, clinical recognition of this group of …
presentation and penetrance. Over the last 30 years, clinical recognition of this group of …
[HTML][HTML] A Comprehensive Approach to the Diagnosis of Leigh Syndrome Spectrum
Background: Leigh syndrome spectrum (LSS) is a novel nomenclature that encompasses
both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of …
both classical Leigh syndrome and Leigh-like phenotypes. Given the heterogeneity of …
Heterologous inferential analysis (HIA) and other emerging concepts: In understanding mitochondrial variation in pathogenesis: There is no more low-hanging fruit
A Vila-Sanjurjo, PM Smith, JL Elson - Mitochondrial Medicine: Volume 3 …, 2021 - Springer
Here we summarize our latest efforts to elucidate the role of mtDNA variants affecting the
mitochondrial translation machinery, namely variants mapping to the mt-rRNA and mt-tRNA …
mitochondrial translation machinery, namely variants mapping to the mt-rRNA and mt-tRNA …
The role of mitochondria in ME/CFS: a perspective
C Tomas, JL Elson - Fatigue: Biomedicine, Health & Behavior, 2019 - Taylor & Francis
Chronic fatigue syndrome (CFS) also known as Myalgic encephalomyelitis (ME) is a
debilitating disease, characterized by the symptom of severe fatigue. ME/CFS is a …
debilitating disease, characterized by the symptom of severe fatigue. ME/CFS is a …
Analysis of functional variants in mitochondrial DNA of Finnish athletes
J Kiiskilä, JS Moilanen, L Kytövuori, AK Niemi… - BMC genomics, 2019 - Springer
Background We have previously reported on paucity of mitochondrial DNA (mtDNA)
haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore …
haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore …
A novel m. 11406 T> A mutation in mitochondrial ND4 gene causes MELAS syndrome
Y Lin, X Xu, D Zhao, F Liu, Y Luo, J Du, D Wang, K Ji… - Mitochondrion, 2020 - Elsevier
Pathogenic point mutations of mitochondrial DNA (mtDNA) are associated with a large
number of heterogeneous diseases involving multiple systems with which patients may …
number of heterogeneous diseases involving multiple systems with which patients may …
Mitochondrial molecular genetic results in a South African cohort: Divergent mitochondrial and nuclear DNA findings
S Meldau, EP Owen, K Khan, GT Riordan - Journal of Clinical …, 2022 - jcp.bmj.com
Aims Mitochondrial diseases form one of the largest groups of inborn errors of metabolism.
The birth prevalence is approximately 1/5000 in well-studied populations, but little has been …
The birth prevalence is approximately 1/5000 in well-studied populations, but little has been …
What can a comparative genomics approach tell us about the pathogenicity of mtDNA mutations in human populations?
Mitochondrial disorders are heterogeneous, showing variable presentation and penetrance.
Over the last three decades, our ability to recognize mitochondrial patients and diagnose …
Over the last three decades, our ability to recognize mitochondrial patients and diagnose …