Mitochondrial disease in adults: recent advances and future promise

YS Ng, LA Bindoff, GS Gorman, T Klopstock… - The Lancet …, 2021 - thelancet.com
Mitochondrial diseases are some of the most common inherited neurometabolic disorders,
and major progress has been made in our understanding, diagnosis, and treatment of these …

Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines

E Mavraki, R Labrum, K Sergeant, CL Alston… - European Journal of …, 2023 - nature.com
Primary mitochondrial disease describes a diverse group of neuro-metabolic disorders
characterised by impaired oxidative phosphorylation. Diagnosis is challenging;> 350 genes …

Clinical features of mtDNA-related syndromes in adulthood

V Montano, F Gruosso, C Simoncini, G Siciliano… - Archives of Biochemistry …, 2021 - Elsevier
Mitochondrial diseases are the most common inheritable metabolic diseases, due to defects
in oxidative phosphorylation. They are caused by mutations of nuclear or mitochondrial DNA …

[HTML][HTML] GDF-15 and mtDNA deletions are useful biomarkers of mitochondrial dysfunction in insulin resistance and PCOS

V Varhegyi, A Modos, D Trager, D Gerszi… - International Journal of …, 2024 - mdpi.com
There is no literature available about the growth differentiation factor-15 (GDF-15) biomarker
in combination with mitochondrial DNA (mtDNA) deletions in insulin resistance (IR), and …

Monogenic kidney diseases in kidney transplantation

V Gillion, A Devresse, E Olinger, G Dahlqvist… - Kidney International …, 2024 - Elsevier
Monogenic kidney diseases are involved in up to 15% of end-stage kidney diseases
(ESKDs) in adults, and in 70% of pediatric patients. When these disorders lead to kidney …

Phenotypic spectrum and clinical course of single large-scale mitochondrial DNA deletion disease in the paediatric population: a multicentre study

K Björkman, J Vissing, E Østergaard… - Journal of Medical …, 2023 - jmg.bmj.com
Background Large-scale mitochondrial DNA deletions (LMD) are a common genetic cause
of mitochondrial disease and give rise to a wide range of clinical features. Lack of …

A de novo novel variant in the MT‐TD gene is associated with prominent extra‐neurologic manifestations

L Sun, Y Ren, Y Ma, Y Zhu, Y Wu, S Wang… - Clinical …, 2024 - Wiley Online Library
Defects in the mitochondrial tRNA genes cause a group of highly clinically and genetically
heterogeneous disorders, which poses a challenge for clinical identification and genetic …

[HTML][HTML] Improved detection of mitochondrial DNA instability in mitochondrial genome maintenance disorders

C Bris, D Goudenège, V Desquiret-Dumas… - Genetics in …, 2021 - Elsevier
Purpose Diseases caused by defects in mitochondrial DNA (mtDNA) maintenance
machinery, leading to mtDNA deletions, form a specific group of disorders. However, mtDNA …

Genetic landscape of primary mitochondrial diseases in children and adults using molecular genetics and genomic investigations of mitochondrial and nuclear …

A Ambrose, S Bahl, S Sharma, D Zhang… - Orphanet Journal of …, 2024 - Springer
Background Primary mitochondrial diseases (PMD) are one of the most common metabolic
genetic disorders. They are due to pathogenic variants in the mitochondrial genome …

The phenotypic spectrum of 47 Czech patients with single, large-scale mitochondrial DNA deletions

N Anteneová, S Kelifová, H Kolářová, A Vondráčková… - Brain sciences, 2020 - mdpi.com
Background: In this retrospective study, we analysed clinical, biochemical and molecular
genetic data of 47 Czech patients with Single, Large-Scale Mitochondrial DNA Deletions …