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Leigh Syndrome: A Comprehensive Review of the Disease and Present and Future Treatments [PDF]

Biomedicines
Leigh syndrome (LS) is a severe neurodegenerative condition with an early onset, typically during early childhood or infancy. The disorder exhibits substantial clinical and genetic diversity.
Giuseppe Magro, Vincenzo Laterza, Federico Tosto   +2 more
doaj   +3 more sources

Molecular basis of Leigh syndrome: a current look [PDF]

Orphanet Journal of Rare Diseases, 2020
Leigh Syndrome (OMIM 256000) is a heterogeneous neurologic disorder due to damage in mitochondrial energy production that usually starts in early childhood.
Manuela Schubert Baldo, Laura Vilarinho
doaj   +3 more sources

Mutations of human NARS2, encoding the mitochondrial asparaginyl-tRNA synthetase, cause nonsyndromic deafness and Leigh syndrome.

PLoS Genetics, 2015
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing loss ...
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin   +37 more
doaj   +5 more sources

Biallelic variants in the NDUFAF6 cause mitochondrial respiratory complex assembly defects associated with Leigh syndrome in probands [PDF]

Molecular Genetics and Metabolism Reports
Background: Variants in NDUFAF6 have been reported to be associated with Leigh syndrome. However, further expansion of the NDUFAF6-phenotype and variants spectrum of NDUFAF6-related Leigh syndrome are still required.
Yuwei Zhou, Xiaofei Zeng, Luyi Zhang, Xiaojie Yin, Xue Ma, Keyi Li, Peijing Qiu, Xiaoting Lou, Liqin Jin, Ya Wang, Yanling Yang, Ting Shen   +11 more
doaj   +3 more sources

Activated microglia and neuroinflammation as a pathogenic mechanism in Leigh syndrome

Frontiers in Neuroscience, 2023
Neuroinflammation is one of the main mechanisms leading to neuronal death and dysfunction in neurodegenerative diseases. The role of microglia as primary mediators of inflammation is unclear in Leigh syndrome (LS) patients.
Nastaran Daneshgar, Mariah R. Leidinger, Stephanie Le, Marco Hefti, Alessandro Prigione, Dao-Fu Dai   +5 more
doaj   +2 more sources

Novel NARS2 variant causing leigh syndrome with normal lactate levels

Human Genome Variation, 2022
Leigh syndrome is the most genetically heterogenous phenotype of mitochondrial disease. We describe a patient with Leigh syndrome whose diagnosis had not been confirmed because of normal metabolic screening results at the initial presentation.
Ryosuke Tanaka, Ryo Takeguchi, Mami Kuroda, Nao Suzuki, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi   +7 more
doaj   +2 more sources

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency [PDF]

Brain Pathology, 2022
Mitochondrial translation defects are a continuously growing group of disorders showing a large variety of clinical symptoms including a wide range of neurological abnormalities.
Gerard Muñoz‐Pujol, Juan Darío Ortigoza‐Escobar, Abraham J. Paredes‐Fuentes, Cristina Jou, Olatz Ugarteburu, Laura Gort, Dèlia Yubero, Àngels García‐Cazorla, Mar O’Callaghan, Jaume Campistol, Jordi Muchart, Vicente A. Yépez, Mirjana Gušić, Julien Gagneur, Holger Prokisch, Rafael Artuch, Antònia Ribes, Roser Urreizti, Frederic Tort   +18 more
openalex   +2 more sources

Transcriptomic analyses reveal neuronal specificity of Leigh syndrome associated genes [PDF]

bioRxiv, 2022
Leigh syndrome (subacute necrotising encephalomyelopathy) is a rare inherited, complex, and typically early onset mitochondrial disorder with clinical and genetic heterogeneity.
Azizia Wahedi, Chandika Soondram, Alan E Murphy, Nathan Skene, Shamima Rahman   +4 more
openalex   +2 more sources

Case report: malignant hypertension associated with catecholamine excess in a patient with Leigh syndrome

Clinical Hypertension, 2023
Background Leigh syndrome is a progressive neurodegenerative mitochondrial disorder caused by multiple genetic etiologies with multisystemic involvement that mostly affecting the central nervous system with high rate of premature mortality.
Ana Solis, Joshua Shimony, Marwan Shinawi, Kevin T. Barton   +3 more
doaj   +2 more sources

Disease models of Leigh syndrome: From yeast to organoids. [PDF]

J Inherit Metab Dis
Leigh syndrome (LS) is a severe mitochondrial disease that results from mutations in the nuclear or mitochondrial DNA that impairs cellular respiration and ATP production. Mutations in more than 100 genes have been demonstrated to cause LS.
Henke MT, Prigione A, Schuelke M.
europepmc   +2 more sources