Expanding the phenotype of DNAJC30-associated Leigh syndrome
This article is protected by copyright. All rights reserved.PMID:35861300 | DOI:10.1111/cge.14196 (Source: Clinical Genetics)
Source: Clinical Genetics - July 21, 2022 Category: Genetics & Stem Cells Authors: Marta Zawadzka Magdalena Krygier Ma łgorzata Pawłowicz Matheus Vernet Machado Bressan Wilke Karolina Rutkowska Naig Gueguen Valerie Desquiret-Dumas Eric W Klee Lisa A Schimmenti Jaros ław Sławek Vincent Procaccio Rafa ł Płoski Maria Mazurkiewicz-Be Source Type: research
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts
Free Radic Biol Med. 2022 Jun 16:S0891-5849(22)00238-6. doi: 10.1016/j.freeradbiomed.2022.06.011. Online ahead of print.ABSTRACTAttachment of cargo molecules to lipophilic triphenylphosphonium (TPP+) cations is a widely applied strategy for mitochondrial targeting. We previously demonstrated that the vitamin E-derived antioxidant Trolox increases the levels of active mitochondrial complex I (CI), the first complex of the electron transport chain (ETC), in primary human skin fibroblasts (PHSFs) of Leigh Syndrome (LS) patients with isolated CI deficiency. Primed by this finding, we here studied the cellular effects of mitoch...
Source: Free Radical Biology and Medicine - June 19, 2022 Category: Biology Authors: Elianne P Bulthuis Claudia Einer Felix Distelmaier Laszlo Groh Sjenet E van Emst-de Vries Els van de Westerlo Melissa van de Wal Jori Wagenaars Richard J Rodenburg Jan A M Smeitink Niels P Riksen Peter H G M Willems Merel J W Adjobo-Hermans Hans Zischka W Source Type: research
Case Report: Optic Atrophy and Nephropathy With m.13513G > A/MT-ND5 mtDNA Pathogenic Variant
Isolated complex I deficiency represents the most common mitochondrial respiratory chain defect involved in mitochondrial disorders. Among these, the mitochondrial DNA (mtDNA) m.13513G>A pathogenic variant in the NADH dehydrogenase 5 subunit gene (MT-ND5) has been associated with heterogenous manifestations, including phenotypic overlaps of mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes, Leigh syndrome, and Leber’s hereditary optic neuropathy (LHON). Interestingly, this specific mutation has been recently described in patients with adult-onset nephropathy. We, here, report the unique com...
Source: Frontiers in Genetics - June 3, 2022 Category: Genetics & Stem Cells Source Type: research
011 Progressive myoclonic epilepsy due to rare mitochondrial ND6 mutation, m.14487T>C
We report the case of a 43-year old man with adult-onset drug-resistant epilepsy, cortical myoclonus and bilateral optic neuropathies. Serial MRI scans over a two year period demonstrated the interval devel- opment of bihemispheric stroke-like lesions. Giant somatosensory evoked potentials and short-duration myoclonic jerks with craniocaudal spread on surface-EMG were consistent with cortical myoclonus. Optical coherence tomography showed bilateral symmetric thinning of the nerve fibre layer in the pap- illomacular bundles. Muscle biopsy was non-diagnostic, however next-generation whole mitochondrial gene sequencing identi...
Source: Journal of Neurology, Neurosurgery and Psychiatry - May 27, 2022 Category: Neurosurgery Authors: Khoo, A., Naidu, S., Wijayendran, S., Merve, A., Bremner, F., Sidhu, M. Tags: Live Poster, 13 May Poster Session 1 Source Type: research
Only pathogenic SURF-1 variants cause leigh syndrome
Josef FinstererAnnals of Indian Academy of Neurology 2022 25(2):304-304 (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - May 25, 2022 Category: Neurology Authors: Josef Finsterer Source Type: research
Only pathogenic SURF-1 variants cause leigh syndrome
Josef FinstererAnnals of Indian Academy of Neurology 2022 25(2):307-307 (Source: Annals of Indian Academy of Neurology)
Source: Annals of Indian Academy of Neurology - May 25, 2022 Category: Neurology Authors: Josef Finsterer Source Type: research
IFN γ Regulates NAD+ Metabolism to Promote the Respiratory Burst in Human Monocytes
Blood Adv. 2022 May 2:bloodadvances.2021005776. doi: 10.1182/bloodadvances.2021005776. Online ahead of print.ABSTRACTIFNγ is an essential and pleiotropic activator of human monocytes, but little is known about the changes in cellular metabolism required for IFNγ-induced activation. We sought to elucidate the mechanisms by which IFNγ reprograms monocyte metabolism to support its immunologic activities. We found that IFNγ increased oxygen consumption rates (OCR) in monocytes, indicative of reactive oxygen species generation by both mitochondria and NADPH oxidase. Transcriptional profiling revealed that this oxidative phe...
Source: Adv Data - May 2, 2022 Category: Epidemiology Authors: Katelyn J McCann Stephen M Christensen Devon H Colby Peter J McGuire Ian A Myles Christa S Zerbe Clifton L Dalgard Gauthaman Sukumar Warren J Leonard Beth A McCormick Steven M Holland Source Type: research
Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis
Conclusions
Neonatal-onset mitochondrial disease has a heterogenous aetiology. The number of diagnoses can be increased, and clarity regarding prognosis can be achieved by comprehensive biochemical and molecular analyses using appropriate tissue samples. (Source: Archives of Disease in Childhood - Fetal and Neonatal Edition)
Source: Archives of Disease in Childhood - Fetal and Neonatal Edition - April 20, 2022 Category: Perinatology & Neonatology Authors: Ebihara, T., Nagatomo, T., Sugiyama, Y., Tsuruoka, T., Osone, Y., Shimura, M., Tajika, M., Matsuhashi, T., Ichimoto, K., Matsunaga, A., Akiyama, N., Ogawa-Tominaga, M., Yatsuka, Y., Nitta, K. R., Kishita, Y., Fushimi, T., Imai-Okazaki, A., Ohtake, A., Oka Tags: Open access Original research Source Type: research
Clinical Characteristics and Outcomes of Acute Childhood Encephalopathy in a Tertiary Pediatric Intensive Care Unit
Conclusions
Primary metabolic encephalopathy was prevalent in younger children, whereas drug-induced toxic encephalopathy was common among older oncology patients. Survivors have significant neurologic morbidity. Failure to regain baseline GCS was a poor prognostic factor for neurological outcomes. (Source: Pediatric Emergency Care)
Source: Pediatric Emergency Care - March 1, 2022 Category: Emergency Medicine Tags: Original Articles Source Type: research
IJERPH, Vol. 19, Pages 2088: Pathogenic Biallelic Mutations in ECHS1 in a Case with Short-Chain Enoyl-CoA Hydratase (SCEH) Deficiency-Case Report and Literature Review
nescu
ECHS1 gene mutations are known to cause mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, a neurodegenerative disorder characterized by psychomotor development delay, lactic acidosis, and basal ganglia lesions resembling Leigh syndrome. Short-chain enoyl-CoA hydratase 1 (ECHS1) deficiency is a very rare and new disorder, with a wide phenotypic spectrum and different outcomes ranging from neonatal death to survival into adulthood. Since the identification of ECHS1 deficiency in 2014, almost 63 patients with pathogenic mutations in the ECHS1 gene have been described to date. This paper focuses on the clin...
Source: International Journal of Environmental Research and Public Health - February 13, 2022 Category: Environmental Health Authors: Carmen Muntean Florin Tripon Alina Bogli ș Claudia B ănescu Tags: Review Source Type: research
NDUFA1 p.Gly32Arg variant in early-onset dementia
Neurobiol Aging. 2022 Jan 21:S0197-4580(22)00012-4. doi: 10.1016/j.neurobiolaging.2021.09.026. Online ahead of print.ABSTRACTEarly-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodeg...
Source: Neurobiology of Aging - February 8, 2022 Category: Geriatrics Authors: Samuli Huttula Henri V äyrynen Seppo Helisalmi Laura Kyt övuori Laura Luukkainen Mikko Hiltunen Anne M Remes Johanna Kr üger Source Type: research
NDUFA1 p.Gly32Arg variant in early-onset dementia
Neurobiol Aging. 2022 Jan 21:S0197-4580(22)00012-4. doi: 10.1016/j.neurobiolaging.2021.09.026. Online ahead of print.ABSTRACTEarly-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodeg...
Source: Neurobiology of Aging - February 8, 2022 Category: Geriatrics Authors: Samuli Huttula Henri V äyrynen Seppo Helisalmi Laura Kyt övuori Laura Luukkainen Mikko Hiltunen Anne M Remes Johanna Kr üger Source Type: research
NDUFA1 p.Gly32Arg variant in early-onset dementia
Neurobiol Aging. 2022 Jan 21:S0197-4580(22)00012-4. doi: 10.1016/j.neurobiolaging.2021.09.026. Online ahead of print.ABSTRACTEarly-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodeg...
Source: Neurobiology of Aging - February 8, 2022 Category: Geriatrics Authors: Samuli Huttula Henri V äyrynen Seppo Helisalmi Laura Kyt övuori Laura Luukkainen Mikko Hiltunen Anne M Remes Johanna Kr üger Source Type: research
NDUFA1 p.Gly32Arg variant in early-onset dementia
Neurobiol Aging. 2022 Jan 21:S0197-4580(22)00012-4. doi: 10.1016/j.neurobiolaging.2021.09.026. Online ahead of print.ABSTRACTEarly-onset dementia (EOD) is highly heritable. However, in many EOD cases the genetic etiology remains unknown. Mitochondrial dysfunction is associated with neurodegeneration and the complex I (CI) deficiency is the most common enzyme deficiency in diseases related to oxidative phosphorylation. The X-chromosomal NDUFA1 gene is essential for the activity of CI. Mutations in NDUFA1 are associated with mitochondrial diseases especially with Leigh syndrome. CI deficiency is also associated with neurodeg...
Source: Neurobiology of Aging - February 8, 2022 Category: Geriatrics Authors: Samuli Huttula Henri V äyrynen Seppo Helisalmi Laura Kyt övuori Laura Luukkainen Mikko Hiltunen Anne M Remes Johanna Kr üger Source Type: research
MELAS or Leigh syndrome, that's the question
Pediatr Endocrinol Diabetes Metab. 2021;27(4):311-312. doi: 10.5114/pedm.2022.112695.ABSTRACTWith interest we read the article by Baszyńska-Wilk et al. about a 12 years old female who was diagnosed with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome upon the clinical presentation, blood tests, and the cerebral magnetic resonance imaging (MRI) [1]. The diagnosis was neither confirmed by biochemical nor by genetic investigations [1]. The study is appealing but raises the following concerns.PMID:35114773 | DOI:10.5114/pedm.2022.112695 (Source: Pediatric Endocrinology, Diabetes, and Metabolism)
Source: Pediatric Endocrinology, Diabetes, and Metabolism - February 4, 2022 Category: Endocrinology Authors: Josef Finsterer Source Type: research
