Mitochondrial isoform. Medical search. Frequent questions

Its role in the regulation of normal mitochondrial function and in different disease states attributed to mitochondrial dysfunction is not known. (nih.gov)
Nonetheless their association with mitochondrial dysfunction highlights this organelle as an important player during CNS homeostasis and disease. (frontiersin.org)
Importantly, it has been suggested that mitochondrial dysfunction might precede the metabolic change. (intechopen.com)
there is a change in metabolism early on in AD patients - which implicates mitochondrial dysfunction and oxidative stress. (anavex.com)
As these syndromes are often linked to mitochondrial dysfunction, researchers hypothesized that a dysfunction in the mitochondrial metabolism might be part of the causes of long COVID. (frontiersin.org)

Mitochondrial Complex IV Subunit 4 Isoform 2 Is Essential for Acute Pulmonary Oxygen Sensing. (nih.gov)

The ME3 gene stands for mitochondrial malic enzyme 3 precursor. (wikipedia.org)

Mitochondrial nucleotide transporters, defined by structural similarlities, include the adenine nucleotide translocator family (SLC25A4, SLC25A5, SLC25A6 and SLC25A31), which under conditions of aerobic metabolism, allow coupling between mitochondrial oxidative phosphorylation and cytosolic energy consumption by exchanging cytosolic ADP for mitochondrial ATP . (guidetopharmacology.org)

It is a mitochondrial enzyme that catalyzes the first reaction of ketogenesis, a metabolic pathway that provides lipid-derived energy for various organs during times of carbohydrate deprivation, such as fasting. (genscript.com)
Furthermore, HIF-1 actively limits the mitochondrial consumption of pyruvate at two levels: (i) through the enzyme PDK (PDH-kinase), which in turn inhibits PDH activity preventing the conversion of pyruvate into acetyl CoA, and thereby limiting mitochondrial metabolism of pyruvate [ 6 ] and (ii) through the direct activation of LDH [ 7 , 8 ]. (hindawi.com)
The mitochondrial enzyme encoded by this gene catalyzes synthesis of carbamoyl phosphate from ammonia and bicarbonate. (genetex.com)

This gene encodes one of the mitochondrial translation elongation factors. (nih.gov)
Alternatively spliced transcript variants encoding different isoforms have been found for this gene. (genscript.com)
Involvement of nutrients and nutritional mediators in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase gene expression. (genscript.com)
For this reason, mitochondrial carrier gene expression needs tight regulation. (cancerindex.org)
This gene is a member of the mitochondrial carrier subfamily of solute carrier protein genes. (thermofisher.com)
The product of this gene functions as a gated pore that translocates ADP from the mitochondrial matrix into the cytoplasm. (thermofisher.com)
Two versions (isoforms) of the BOLA3 protein are produced from the BOLA3 gene. (medlineplus.gov)
At least three mutations in the BOLA3 gene have been found to cause multiple mitochondrial dysfunctions syndrome. (medlineplus.gov)

Structural insights into mammalian mitochondrial translation elongation catalyzed by mtEFG1. (nih.gov)
Mammalian mitochondrial respiratory chain (MRC) complexes are able to associate into quaternary structures named supercomplexes (SCs), which normally coexist with non-bound individual complexes. (elifesciences.org)
Here we demonstrate that in mammalian cells, expression of the COX4-1 and COX4-2 isoforms is O(2) regulated. (nih.gov)

Isoform-specific AMPK activity was measured in skeletal muscle in response to insulin, contraction, or hypoxia. (diabetesjournals.org)
This most likely occurs from defects in postreceptor insulin signal transduction at the level of insulin receptor substrate-1 and phosphoinositide (PI) 3-kinase ( 6 - 9 ) as well as defects in trafficking and/or function of GLUT4 ( 10 , 11 ), the major insulin-regulated GLUT isoform expressed in skeletal muscle ( 12 ). (diabetesjournals.org)
Isoform 1 is widely expressed with the highest expression in skeletal muscle, heart and testicles. (lu.se)

O(2) is the ultimate electron acceptor for mitochondrial respiration, a process catalyzed by cytochrome c oxidase (COX). (nih.gov)

Furthermore, the data gained from experiments using these methods have contributed new insights into our understanding of the glycosylation of proteins with mitochondrial function.The first such method is a chemical biology approach for the discovery of glycoproteins in Caenorhabditis elegans (C. elegans). (unr.edu)
Namely, I have determined that multiple proteins with established and essential mitochondrial function have low-abundance glycosylated isoforms (Chapters 3 and 4). (unr.edu)
The co-chaperone Hep1 is required to prevent the aggregation of mitochondrial Hsp70 proteins. (cipsm.de)
Outer mitochondrial membrane permeabilization and cytochrome c release are typically achieved by pro-apoptotic Bcl-2 proteins, such as Bax and Bak. (nature.com)
Importantly, the mitochondrial association of n-cofilin and ADF had no impact on apoptosis signaling because ablation of either n-cofilin, ADF, or both proteins together did not change cell death progression. (nature.com)

Additionally, exacerbated type I IFN responses triggered by mitochondrial DNA (mtDNA), failures in mitophagy, ER-mitochondria communication and mtROS production promote neurodegeneration. (frontiersin.org)
isoform A) expressed in the cytosol of cells rapidly translocates to the mitochondria, where it is converted to the mature form (81-210) by mitochondrial processing peptidase. (nih.gov)
The mitochondrial form of frataxin has long been thought to be present in erythrocytes even though paradoxically, erythrocytes lack mitochondria. (nih.gov)
Interestingly, mitochondrial association of ADF and n-cofilin during apoptosis was preceded by, and dependent on, actin that translocated by a yet unknown mechanism to mitochondria during cell death. (nature.com)

During electron transport, complexes I, III, and IV pump protons from the mitochondrial matrix to the intermembrane space, generating a proton gradient that provides the protonmotive force exploited by complex V to synthesize ATP. (elifesciences.org)
Mitochondrial electron transport enzymes are also significant sources of cellular ROS. (bruker.com)

Mitochondrial translation is crucial for maintaining mitochondrial function and mutations in this system lead to a breakdown in the respiratory chain-oxidative phosphorylation system and to impaired maintenance of mitochondrial DNA. (nih.gov)
Understanding the mutations in APOE, their structural properties, and their isoforms is important to determine its role in various diseases and to advance the development of therapeutic strategies. (dovepress.com)
Although some mutations affect both isoforms of the BOLA3 protein, loss of the mitochondrial version appears to be responsible for the condition. (medlineplus.gov)

PDK2 inhibits the mitochondrial pyruvate dehydrogenase complex by phosphorylation of the E1 alpha subunit, thus contributing to the regulation of glucose metabolism. (thermofisher.com)
In contrast to normal cells, most cancer cells predominantly produce energy by a high rate of glycolysis followed by lactate fermentation, even in the presence of oxygen, a less efficient metabolism compared to a low rate of glycolysis followed by mitochondrial oxidation of pyruvate [ 2 ]. (hindawi.com)
This severe condition is characterized by impairment of more than one mitochondrial function, such as reduced activity of complex I, II, or III, pyruvate dehydrogenase, alpha-ketoglutarate dehydrogenase, or the glycine cleavage system. (medlineplus.gov)
Reduced activity of complex I, II, or III, pyruvate dehydrogenase, or alpha-ketoglutarate dehydrogenase leads to potentially fatal lactic acidosis, encephalopathy, and other signs and symptoms of multiple mitochondrial dysfunctions syndrome. (medlineplus.gov)

Mitochondrial carriers catalyse the translocation of numerous metabolites across the inner mitochondrial membrane, playing a key role in different cell functions. (cancerindex.org)
The molecular machinery responsible for energy transformation is the oxidative phosphorylation (OXPHOS) system, which is canonically composed of five multiprotein complexes embedded in the inner mitochondrial membrane. (elifesciences.org)

While this protein is likely involved in Fe-S cluster formation in the cytoplasm, the role of this isoform is not well understood. (medlineplus.gov)

Markers of Parkinson (PD) and Alzheimer (AD) diseases are able to induce innate immune pathways induced by alterations in mitochondrial Ca 2+ homeostasis leading to neuroinflammation. (frontiersin.org)
Disturbances in mitochondrial dynamics may influence many cellular and molecular pathways, as calcium-dependent immune activation, transcription factors phosphorylation, cytokine secretion, organelle transference and even cell death. (frontiersin.org)

Glyoxalase II exists as two isoforms, one cytosolic and one mitochondrial. (rndsystems.com)

Several APOE isoforms with major structural differences were discovered and shown to influence the brain lipid transport, glucose metabolism, neuronal signaling, neuroinflammation, and mitochondrial function. (dovepress.com)

The release of cytochrome c can be modulated by various factors, such as changes in the cellular redox balance and lipid homeostasis, mitochondrial dynamics, and perturbations in the cytoskeleton. (nature.com)

Analyzing 5′-upstream non-protein-encoding regions of the human mitochondrial function-associated genes, we speculate that mitochondrial functions could be recovered or improved at a transcriptional level. (intechopen.com)
One possible mechanism used could be to alter the expression of genes encoded in the mitochondrial genome. (frontiersin.org)
Under conditions of reduced O(2) availability, hypoxia-inducible factor 1 (HIF-1) reciprocally regulates COX4 subunit expression by activating transcription of the genes encoding COX4-2 and LON, a mitochondrial protease that is required for COX4-1 degradation. (nih.gov)

Several major APOE isoforms can be distinguished: E2, E3, and E4. (dovepress.com)
Emerging study has shown that APOE and APOE isoform functions may extend beyond lipid metabolism to include maintenance of normal brain function. (dovepress.com)

Mitochondrial respiratory chain organization does not seem to be conserved in all organisms. (elifesciences.org)

The shortest isoform may not be localized to the mitochondrion. (genetex.com)

The lack of mitochondrial BOLA3 protein impairs Fe-S cluster formation. (medlineplus.gov)

On the other hand, regulation of mitochondrial dynamics is essential for CNS health maintenance and leading to the induction of IL-10 and reduction of TNF-α secretion, increased cell viability and diminished cell injury in addition to reduced oxidative stress. (frontiersin.org)

Glucose is the major substrate for ATP synthesis through glycolysis and oxidative phosphorylation (OXPHOS), whereas intermediary metabolism through the tricarboxylic acid (TCA) cycle utilizes non-glucose-derived monocarboxylates, amino acids, and alpha ketoacids to support mitochondrial ATP and GTP synthesis. (molvis.org)
However, while there are a few studies investigating the effect of SARS-CoV-2 infection on mitochondrial metabolism, the effect on the transcription of mitochondrial non-coding RNAs has not been investigated yet. (frontiersin.org)
This result suggests that the SARS-CoV-2 infection somehow affected the metabolism of small mitochondrial RNAs specifically without altering the overall mitochondrial transcription. (frontiersin.org)
However, the mechanism used by SARS-CoV-2 to disrupt mitochondrial metabolism is unknown. (frontiersin.org)

Further members of the mitochondrial nucleotide transporter subfamily convey diverse substrates including CoA, although not all members have had substrates identified. (guidetopharmacology.org)

Here, we discuss the importance of these mitochondrial dynamics during neuroinflammation, and how they correlate either with the amelioration or worsening of CNS disease. (frontiersin.org)

Recent studies reported a mitochondrial translocation of n-cofilin during apoptosis. (nature.com)

Mature frataxin (81-210) is a critically important protein because it facilitates the assembly of mitochondrial iron-sulfur cluster protein complexes such as aconitase, lipoate synthase, and succinate dehydrogenases. (nih.gov)

1999. Role of mitochondrial lactic dehydrogenase and lactate oxidation in the 'intra-cellular lactate shuttle. (berkeley.edu)

The protein is implicated in the function of the permability transition pore complex (PTPC), which regulates the release of mitochondrial products that induce apoptosis. (thermofisher.com)

Mitochondrial and Plasma Membrane Lactate Transporter and Lactate Dehydrogenase Isoform Expression In Breast Cancer Cell Lines. (berkeley.edu)

SIRVs: spike-in RNA variants as external isoform controls in RNA-sequencing. (nature.com)
The four variants shown in the table above are the most common isoforms found in human cells. (wikipedia.org)

Isoform 1 is processed by cleavage of a transit peptide. (lu.se)
We could show that inhibition of COX-2 causes increased apoptosis, mediated through activation of caspase-8, cleavage of Bid and mitochondrial release of cytochrome c. (lu.se)

In conclusion, obesity-related insulin resistance is associated with an isoform-specific impairment in AMPKα1 in response to contraction. (diabetesjournals.org)

Full-length RNA-sequencing methods using long-read technologies can capture complete transcript isoforms, but their throughput is limited. (nature.com)
Comparative assessment of methods for the computational inference of transcript isoform abundance from RNA-seq data. (nature.com)

To elucidate the general importance of ADF/cofilin activity for apoptosis, we exposed mouse embryonic fibroblasts deficient for n-cofilin, ADF (actin depolymerizing factor), or all ADF/cofilin isoforms to well-characterized apoptosis inducers. (nature.com)

Recent research has revealed important correlation of mitochondrial dynamics and the pathophysiology of brain diseases, as Alzheimer's. (frontiersin.org)
Small molecules are being sought out by researchers to perform as isoform-selective Nox inhibitor agents in inflammatory and fibrotic diseases. (bruker.com)
Researchers concluded that the rigorous and swift identification of O 2 ⨪ and H 2 O 2 will enable a deeper comprehension of the biology behind H 2 O 2 and O 2 ⨪-producing enzymes, potentially assisting in the discovery of selective Nox isoform inhibitors and the advancement of care for patients with inflammatory- and fibrosis-related diseases. (bruker.com)

Fig. 2: Single-cell isoform-resolved sequencing of primary human CD8 + T cells with MAS-ISO-seq. (nature.com)
Structures of the human mitochondrial ribosome bound to EF-G1 reveal distinct features of mitochondrial translation elongation. (nih.gov)
Characterization of a new N-terminally acetylated extra-mitochondrial isoform of frataxin in human erythrocytes. (nih.gov)

Thus, using publicly available data, I explored the effect of SARS-CoV-2 on the expression of several mitochondrial non-coding RNAs in patients recovering from COVID-19. (frontiersin.org)
No change in the expression of long non-coding RNAs was detected at any stage of the infection, but up to 43 small mitochondrial RNAs have their expression altered during the recovery from COVID-19. (frontiersin.org)
This persistent alteration in the expression of small mitochondrial RNAs might be involved in the long COVID syndrome and further studies are needed to confirm the possibility. (frontiersin.org)
Isoform 2 has the highest expression levels in tissues containing proliferating cells. (lu.se)

Dr Eric Reiman, executive director of the Banner Alzheimer's Institute, said most of the mitochondrial pores and election transport chains are downregulated in regions of the AD brain. (anavex.com)

Immunohistochemical detection of MCT, LDH isoforms, and COx in control breast cell line HMEC 184. (berkeley.edu)

There is three times as much isoform E in erythrocytes (20.9 ± 6.4 ng/mL) from the whole blood of healthy volunteers (n = 10) when compared with the mature mitochondrial frataxin present in other blood cells (7.1 ± 1.0 ng/mL). (nih.gov)
Isoform E lacks a mitochondrial targeting sequence and so is distributed to both cytosol and the nucleus when expressed in cultured cells. (nih.gov)

This phenomenon was not accompanied by an increase in mitochondrial respiratory activity. (elifesciences.org)

Anatomy1

Organisms1

Diseases1

Chemicals and Drugs6

Phenomena and Processes2

Information Science2

Geographicals2

Dysfunction5

Subunit 4 isoform1

Precursor1

Adenine nucleotide t1

Enzyme3

Gene8

Mammalian3

Skeletal muscle3

Cytochrome c oxida1

Proteins5

Mitochondria4

Electron2

Mutations3

Pyruvate4

Inner mitochon2

Cytoplasm1

Pathways2

Cytosolic1

Structural1

Homeostasis1

Genes3

APOE2

Respiratory chain1

Mitochondrion1

Impairs1

Regulation1

Metabolism4

Subfamily1

Neuroinflammation1

Translocation1

Synthase1

Oxidation1

Function1

Transporter1

Variants2

Cleavage2

Impairment1

Transcript2

Apoptosis1

Diseases3

Human3

Expression4

Chains1

Detection1

Cells2

Activity1