Strategies for fighting mitochondrial diseases

C Viscomi, M Zeviani - Journal of internal medicine, 2020 - Wiley Online Library
Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by
faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of …

Comprehensive summary of mitochondrial DNA alterations in the postmortem human brain: A systematic review

A Valiente-Pallejà, J Tortajada, BK Bulduk, E Vilella… - …, 2022 - thelancet.com
Summary Background Mitochondrial DNA (mtDNA) encodes 37 genes necessary for
synthesizing 13 essential subunits of the oxidative phosphorylation system. mtDNA …

Epilepsy in mitochondrial diseases—current state of knowledge on aetiology and treatment

D Wesół-Kucharska, D Rokicki, A Jezela-Stanek - Children, 2021 - mdpi.com
Mitochondrial diseases are a heterogeneous group of diseases resulting from energy deficit
and reduced adenosine triphosphate (ATP) production due to impaired oxidative …

Towards a therapy for mitochondrial disease: an update

C Garone, C Viscomi - Biochemical Society Transactions, 2018 - portlandpress.com
Preclinical work aimed at developing new therapies for mitochondrial diseases has recently
given new hopes and opened unexpected perspectives for the patients affected by these …

Complex I deficiency in m. 3243A> G fibroblasts is alleviated by reducing NADH accumulation

T Liufu, H Yu, J Yu, M Yu, Y Tian, Y Ou, J Deng… - Frontiers in …, 2023 - frontiersin.org
Introduction: Mitochondrial disease is a spectrum of debilitating disorders caused by
mutations in the mitochondrial DNA (mtDNA) or nuclear DNA that compromises the …

Clinical syndromes associated with mtDNA mutations: where we stand after 30 years

V Carelli, C La Morgia - Essays in biochemistry, 2018 - portlandpress.com
The landmark year 1988 can be considered as the birthdate of mitochondrial medicine,
when the first pathogenic mutations affecting mtDNA were associated with human diseases …

Glutamate-induced deregulation of Krebs cycle in mitochondrial encephalopathy lactic acidosis syndrome stroke-like episodes (MELAS) syndrome is alleviated by …

S Belal, D Goudenège, C Bocca, F Dumont… - Biomedicines, 2022 - mdpi.com
(1) Background: The development of mitochondrial medicine has been severely impeded by
a lack of effective therapies.(2) Methods: To better understand Mitochondrial …

Metabolomics and mitochondrial dysfunction in cardiometabolic disease

A Shastry, K Dunham-Snary - Life Sciences, 2023 - Elsevier
Circulating metabolites are indicators of systemic metabolic dysfunction and can be detected
through contemporary techniques in metabolomics. These metabolites are involved in …

Ketogenic treatment reduces the percentage of a LHON heteroplasmic mutation and increases mtDNA amount of a LHON homoplasmic mutation

S Emperador, E López-Gallardo… - Orphanet Journal of …, 2019 - Springer
Background The vision loss in Leber hereditary optic neuropathy patients is due to
mitochondrial DNA mutations. No treatment has shown a clear-cut benefit on a clinically …

Potential applications of mitochondrial therapy with a focus on Parkinson's disease and mitochondrial transplantation

P Wal, A Wal, H Vig, D Mahmood… - Advanced …, 2023 - pmc.ncbi.nlm.nih.gov
Purpose: Both aging and neurodegenerative illnesses are thought to be influenced by
mitochondrial malfunction and free radical formation. Deformities of the energy metabolism …