OPA1 regulates respiratory supercomplexes assembly: the role of mitochondrial swelling
Publication date: Available online 20 December 2019Source: MitochondrionAuthor(s): Sehwan Jang, Sabzali JavadovAbstractOptic atrophy type 1 protein (OPA1), a dynamin-related GTPase, that, in addition to mitochondrial fusion, plays an important role in maintaining the structural organization and integrity of the inner mitochondrial membrane (IMM). OPA1 exists in two forms: IMM-bound long-OPA1 (L-OPA1) and soluble short-OPA1 (S-OPA1), a product of L-OPA1 proteolytic cleavage localized in the intermembrane space. In addition to OPA1, the structural and functional integrity of IMM can be regulated by changes in the matrix volu...
Source: Mitochondrion - December 20, 2019 Category: Biochemistry Source Type: research
Genomic profiling of Mitochondrial DNA reveals novel complex gene mutations in familial type 2 diabetes mellitus individuals from Mizo ethnic population, Northeast India
Publication date: Available online 17 December 2019Source: MitochondrionAuthor(s): Freda Lalrohlui, John Zohmingthanga, Vanlal hruaii, Nachimuthu Senthil KumarAbstractThe variants reported for mitochondrial DNA (mtDNA) and type 2 diabetes (T2D) may not be accountable for the disease in certain other populations and the risk depends upon numerous factors which may include genetics, environment as well as ethnicity. This leads to a challenge in identifying, exploring and comparing the variants between diabetic cases and healthy controls in a remote unexplored tribal population. To study the possible contribution of mtDNA var...
Source: Mitochondrion - December 18, 2019 Category: Biochemistry Source Type: research
Decreased membrane cholesterol in liver mitochondria of the point mutation mouse model of juvenile Niemann-Pick C1, Npc1nmf164
Publication date: Available online 17 December 2019Source: MitochondrionAuthor(s): Robert P Erickson, Siddhesh Aras, Neeraja Purandare, Maik Hüttemann, Jenney Liu, Jessica Dragotto, Maria Teresa Fiorenza, Lawrence I. GrossmanAbstractIt has long been known that there is decreased mitochondrial function in several tissues of Niemann-Pick C1 model mice and cultured cells. These defects contribute to the accumulation of Reactive Oxygen Species (ROS) and tissue damage. It is also well established that there is increased unesterified cholesterol, stored in late endosomes/lysosomes, in many tissues in mutant humans, mouse models...
Source: Mitochondrion - December 18, 2019 Category: Biochemistry Source Type: research
Positive regulation of human PINK1 and Parkin gene expression by Nuclear respiratory factor 1
In conclusion, NRF-1 has a positive regulatory effect on the transcription of PINK1 and Parkin genes, and involves in mitochondrial quality control through regulating PINK1/Parkin-mediated mitophagy. (Source: Mitochondrion)
Source: Mitochondrion - December 18, 2019 Category: Biochemistry Source Type: research
Mitochondrial mRNA Fragments are Circularized in a Human HEK Cell Line
Publication date: Available online 9 December 2019Source: MitochondrionAuthor(s): Landon G. Mance, Ishaat Mawla, Steven M. Shell, A. Bruce CahoonAbstractThe relatively recent focus on the widespread occurrence and abundance of circular RNAs (circRNA) in the human cell nucleus has sparked an intensive interest in their existence and possible roles in cell gene expression and physiology. The presence of circRNAs in mammalian mitochondria, however, has been under-explored. Mitochondrial mRNAs differ from those produced from nuclear genes because they lack introns and are transcribed as poly-cistronic transcripts that are endo...
Source: Mitochondrion - December 9, 2019 Category: Biochemistry Source Type: research
Mitochondrial Function and Brain Metabolic Score (BMS) in Ischemic Stroke: Evaluation of “Neuroprotectants” Safety and Efficacy
Publication date: Available online 29 November 2019Source: MitochondrionAuthor(s): Avraham Mayevsky, Hofit Kutai-Asis, Michael TolmasovAbstractThe initial and significant event developed in ischemic stroke is the sudden decrease in blood flow and oxygen supply to brain tissue, leading to dysfunction of the mitochondria. Many attempts were and are being made to develop new drugs and treatments that will save the ischemic brain, but the efficacy is not optimal and in many patients, irreversible damage to the brain will persist. We review a unique approach to evaluate mitochondrial function and microcirculatory hemodynamic in...
Source: Mitochondrion - November 30, 2019 Category: Biochemistry Source Type: research
Editorial Board
Publication date: November 2019Source: Mitochondrion, Volume 49Author(s): (Source: Mitochondrion)
Source: Mitochondrion - November 28, 2019 Category: Biochemistry Source Type: research
Non-invasive versus ex vivo measurement of mitochondrial function in an endotoxemia model in rat: toward monitoring of mitochondrial therapy
Publication date: Available online 23 November 2019Source: MitochondrionAuthor(s): Mark A. Wefers Bettink, Floor A. Harms, Nathalie Dollee, Patricia A.C. Specht, Nicolaas J.H. Raat, G.C. Schoonderwoerd, Egbert G. MikAbstractMitochondrial function has been predominantly measured ex vivo. Due to isolation and preservation procedures ex vivo measurements might misrepresent in vivo mitochondrial conditions. Direct measurement of in vivo mitochondrial oxygen tension (mitoPO2) and oxygen disappearance rate (ODR) with the protoporphyrin IX‐triplet state lifetime technique (PpIX-TSLT) might increase our understanding of mitochon...
Source: Mitochondrion - November 25, 2019 Category: Biochemistry Source Type: research
Cell Stress Management by the Mitochondrial LonP1 Protease-nsights into Mitigating Developmental, Oncogenic, Cardiac Stress
Publication date: Available online 19 November 2019Source: MitochondrionAuthor(s): Sundararajan Venkatesh, Carolyn K. SuzukiAbstractMitochondrial LonP1 is an essential stress response protease that mediates mitochondrial proteostasis, metabolism and bioenergetics. Homozygous and compound heterozygous variants in the LONP1 gene encoding the LonP1 protease have recently been shown to cause a diverse spectrum of human pathologies, ranging from classical mitochondrial disease phenotypes, in addition to profound neurologic impairment and multi-organ dysfunctions, some of which are uncommon to mitochondrial disorders. In this re...
Source: Mitochondrion - November 20, 2019 Category: Biochemistry Source Type: research
Cerebrospinal fluid ATP as a potential biomarker in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes (MELAS)
Publication date: Available online 19 November 2019Source: MitochondrionAuthor(s): Takamasa Nukui, Atsushi Matsui, Hideki Niimi, Mamoru Yamamoto, Noriyuki Mastuda, Jin-Lan Piao, Kyo Noguchi, Isao Kitajima, Yuji NakastujiAbstractMitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is caused by defective oxidative phosphorylation in the cerebral parenchyma, cerebral blood vessels, and leptomeningeal tissue. Although increased serum and cerebrospinal fluid (CSF) lactate level has been used as a diagnostic biomarker in patients with MELAS, no biomarkers reflecting disease activity exist. Since we hav...
Source: Mitochondrion - November 20, 2019 Category: Biochemistry Source Type: research
Hydrogen Sulfide Attenuates Hyperhomocysteinemia-Induced Mitochondrial Dysfunctions in Brain
Publication date: Available online 18 November 2019Source: MitochondrionAuthor(s): Mohit Kumar, Rajat SandhirAbstractHyperhomocysteinemia (HHcy) has been implicated in development of neurodegenerative conditions and mild cognitive disorders. Mitochondrial dysfunctions are the major mechanisms involved in homocysteine (Hcy)-induced neurotoxicity. Although, hydrogen sulfide has been reported as potent antioxidant, its effects on Hcy-induced mitochondrial dysfunctions have not been studied. Therefore, the present study has been designed to evaluate the protective effect of NaHS on Hcy-induced mitochondrial dysfunctions in bra...
Source: Mitochondrion - November 18, 2019 Category: Biochemistry Source Type: research
Analysis of secondary mtDNA mutations in families with Leber’s hereditary optic neuropathy: four novel variants and their association with clinical presentation
In this study we analyzed the whole mtDNA sequence in six LHON families from Serbian population. The mtDNA sequencing was performed by Sanger’s method and various bioinformatic tools were used for analysis of detected mutations. LHON patients carry all three (m.3460G>A, m.11778G>A and m.14484T>C) primary mutations, together with numerous secondary mtDNA mutations. Four novel mutations (m.4516G>A, m.8779C>T, m.13138G>A and m.15986insG) in four different families were discovered. The m.8779C>T and m.13138G>A mutations could have a potential influence on LHON symptoms, but the issue of effect of secondary mtDNA mutations in...
Source: Mitochondrion - November 16, 2019 Category: Biochemistry Source Type: research
Mitochondrial complex IV is lost in neurons in the cuprizone mouse model
ConclusionNeurons are affected by cuprizone-treatment. Whether this mitochondrial dysfunction acts as a subclinical trigger for demyelination and the long-term axonal degeneration that proceeds after cuprizone treatment stops remains unclear.Graphical abstractThe cartoon gives an overview of the assembly of cytochrome oxidase and sites at which the copper is inserted. Mitochondrial DNA encoded subunits form the core of the complex and copper, an essential component of electron transport mechanism, is incorporated into the redox centres of both COX 1 and COX2. Multiple assembly factors are required for the addition of heme ...
Source: Mitochondrion - November 1, 2019 Category: Biochemistry Source Type: research
A novel mutation in the mitochondrial MT-ND5 gene in a family with MELAS. The relevance of genetic analysis on targeted tissues
We report the case of two members of the same family with a novel mitochondrial DNA (mtDNA) gene variant in the MT-ND5 gene associated with MELAS syndrome and discuss limitations of genetics studies. The m.13045A > G mutation was detected at very low load in the daughter’s urine cells (5%) and at different levels in the skeletal muscle of both mother (50%) and daughter (84%), being absent in blood, hair and saliva.Our findings suggest that non-invasive genetic assessment in urine cells may not be a sensitive diagnostic method neither a good predictor of disease development in relatives of some families with mtDNA-ass...
Source: Mitochondrion - October 31, 2019 Category: Biochemistry Source Type: research
Three rare pathogenic mtDNA substitutions in LHON patients with low heteroplasmy
Publication date: Available online 26 October 2019Source: MitochondrionAuthor(s): Tatiana D. Krylova, Natalia L. Sheremet, Vyacheslav Yu. Tabakov, Konstantin G. Lyamzaev, Yulia S. Itkis, Polina G. Tsygankova, Natalia A. Andreeva, Maria S. Shmelkova, Tatiana A. Nevinitsyna, Vitaly V. Kadyshev, Ekaterina Yu. ZakharovaAbstractIn this article we present clinical, molecular and biochemical investigations of three patients with LHON caused by rare point substitutions in mtDNA. One patient harbours the known mtDNA mutation (m.13513 G>A), the others have new variants (m.13379 A>G in MT-ND5 gene and m.14597 A>G in MT-ND6 gene, whic...
Source: Mitochondrion - October 26, 2019 Category: Biochemistry Source Type: research
