(1997) Mitochondrial encephalomyopathy with coenzyme Q10 deficiency. Di giovanni s, mirabella m, spinazzola a, crociani p, silvestri g, broccolini a,. (2001) coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial coq10 deficiency. Boitier e, degoul f, desguerre i, charpentier c, francois d, ponsot g,. (1998) A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency. J neurol Sci 156:4146. Aure k, benoist jf, de Ogier baulny h, romero nb, rigal o, lombes A (2004) Progression despite replacement of a myopathic form of coenzyme Q10 defect.Sci usa 86:23792382. Sobreira c, hirano m, shanske s, keller rk, haller rg, davidson e,.
Pmc free article, pubMed. Villalba jm, navas P (2000) Plasma membrane redox system in the control of stress-induced apoptosis. Antioxid Redox Signal 2:213230. Walter l, miyoshi h, leverve x, bernardi p, fontaine e (2002) Regulation of the mitochondrial permeability transition pore by ubiquinone analogs. Free radic Res 36:405412. Cornell ba, keniry ma, post a, robertson rn, weir le, westerman pw (1987) Location and activity of ubiquinone 10 and ubiquinone analogues in model and biological membranes. Turunen m, wehlin l, sjoberg m, lundahl j, dallner g, brismar k, sindelar pj (2002) Beta2-Integrin and lipid modifications indicate a non-antioxidant mechanism for the anti-atherogenic effect of dietary coenzyme Q10. Biochem biophys Res Commun 296:255260. Watts gf, playford da, croft kd, ward nc, mori ta, burke v (2002) coenzyme Q(10) improves endothelial dysfunction of the brachial artery in Type ii diabetes mellitus. Saiki r, ogiyama y, kainou t, nishi t, matsuda h, kawamukai m (2003) Pleiotropic phenotypes of fission yeast defective in ubiquinone-10 production. A study from the abc1Sp (coq8Sp) mutant.
Human coenzyme, q10, deficiency - pubMed Central (PMC)
Turunen m, olsson j, dallner G (2004) Metabolism and function of coenzyme. Biochim biophys Acta 1660:171199. Crane fl, hatefi y, lester rl, widmer C (1957) Isolation of a quinone from beef heart mitochondria. Biochim biophys Acta 25:220221. Santos-Ocana c, do tq, padilla s, navas p, clarke cf (2002) Uptake of exogenous coenzyme q and transport to mitochondria is required for bc1 complex stability in yeast coq mutants. J biol Chem 277. Sun il, sun ee, crane fl, morre dj, lindgren a, low logo H (1992) Requirement for coenzyme q in plasma membrane electron transport. Proc Natl Acad Sci usa.
Primary coenzyme, q 10 deficiency - genetics Home reference
Phosphorylated creb can subsequently bind to the creb response element in the promoter of genes involved in cell differentiation (13). Also, independently of rar, ra was found to inhibit erk1/2 phosphorylation/activation and subsequent AP1-mediated expression of interleukin-6 in synovial cells (14). Hence, ra can influence the expression of genes whose promoters do not contain rare. By regulating the expression of over 500 retinoid-responsive genes (including several genes involved in vitamin A metabolism itself retinoic acid isomers play major roles in cellular proliferation and differentiation (i.e., cell commitment to highly specialized functions). Regulatory capacity of retinol In the eye and tissues like white adipose and muscle, retinol plasma membrane receptor /transporter stra6 accepts retinol from extracellular rbp and unloads it to intracellular retinol-binding protein (crbp). Stra6 also cooperates with lecithin:retinol acyltransferase (lrat an enzyme that catalyzes retinol esterification and storage, to maintain an inward concentration gradient of retinol (15). Interestingly, retinol uptake by stra6 was found to trigger the activation of a signaling cascade mediated by tyrosine kinases known as Janus kinases (JAK) and associated transcription factors (stat).
Rar and rxr subtypes form either complexes of two of the same protein (RAR/rar and rxr/rxr homodimers ) or complexes of two different proteins (RAR/rxr heterodimers ). Rar/rxr heterodimers can bind to a regulatory dna sequence called retinoic acid response element (rare) located within the promoter of retinoid-responsive genes. The transcriptional activity of rar/rxr heterodimers appears to be mainly driven by the binding of all- trans -ra to rar. The activation of rar by ra binding triggers the recruitment of transcriptional coregulators to target promoters, thereby inhibiting or allowing the transcription of genes (8). Rxr also forms heterodimers with several other nuclear receptors, including thyroid hormone receptor (tr vitamin D receptor (vdr steroid receptors, and peroxisome proliferator-activated receptor (ppar) (9). In this way, vitamin A may interact with thyroid hormone, vitamin d, steroids (e.g., estrogen or ppar ligands signaling pathways and influence the transcription of a broad range of genes.
There is also evidence that RA/rar can affect gene expression in a rare-independent manner. For example, it was reported that rar could interfere with tgfβ/Smad signaling pathway through direct interaction of rar with the heterodimeric transcription factor, Smad3/Smad4. In the absence of ra, rar was found to act as a coactivator of Smad3/Smad4-mediated transcription, while rar agonists repressed the transcriptional activity of Smad3/Smad4 (10). In retinoblastoma cells, rar was also involved in ra-induced activation of signaling cascades mediated by tyrosine kinases known as phosphoinositide 3-kinase (PI3K) and leading to cell differentiation (11, 12). Ra also appeared to induce neuronal differentiation by activating erk1/2 map kinase signaling pathway that phosphorylated transcription factor, creb (cyclic amp response element binding protein).
Q 10 deficiency - wikipedia
In rod cells, 11- cis -retinal binds to a protein called opsin to form the visual pigment rhodopsin (also known as visual purple). Absorption of a photon of light catalyzes the isomerization of 11- cis -retinal to all- trans -retinal that is released from the opsin molecule. This photoisomerization triggers a cascade of events, leading to the generation of a nerve impulse conveyed by the optic nerve to the brains visual cortex. All- trans -retinal is converted to all- trans -retinol and transported across the interstitial space to the rpe cells, thereby completing the visual cycle. A similar cycle occurs in cone cells that contain red, green, or blue opsin proteins required for the absorption of photons from the visible light spectrum (2).
Vitamin a is also essential for mammalian eye development (6). Thus, because vitamin a is required for the normal functioning of the retina, dim-light vision, and color vision, inadequate retinol and retinal available to the retina result in impaired dark adaptation. In the severest cases of vitamin A deficiency, thinning and ulceration of the cornea leads to blindness (see deficiency ). Regulation of gene expression Regulatory capacity of retinoic acid In cells, all- trans -retinol can be either stored (in the form of retinyl ester) or oxidized to all- trans -retinal by alcohol dehydrogenases. In turn, retinaldehyde dehydrogenases can catalyze the conversion of all- trans -retinal into two biologically active isomers of retinoic acid (ra all- trans -ra and 9- cis -ra. Ra isomers act as hormones to affect gene expression and thereby influence numerous physiological processes. All- trans -ra and 9- cis -ra are transported to the nucleus of the cell bound to cellular retinoic acid-binding proteins (crabp). Within the nucleus, ra isomers bind to specific nuclear receptor proteins that are ligand -dependent transcription factors ( Figure 3 ). Both all- trans -ra and 9- cis -ra can bind to retinoic acid receptors (rarα, rarβ, and rarγ whereas only 9- cis -ra binds to retinoid X receptors (rxrα, rxrβ, and rxrβ) (7).
Q 10, deficiency, symptoms
When appropriate, retinyl esters are hydrolyzed to generate all- trans -retinol, which binds to retinol binding protein (RBP) before being released in the bloodstream. The all- trans -retinol/rbp complex circulates bound to the protein, transthyretin, which delivers all- trans -retinol to peripheral tissues (reviewed in 2 ). Vitamin a as retinyl esters in chylomicrons was also found to have an appreciable role in delivering vitamin A to extrahepatic tissues, especially in early life (3, 4). Visual system and eyesight Located at the back of the eye, the retina contains two main huisje types of light-sensitive receptor cells rituals known as rod and cone photoreceptor cells. Photons (particles of light) that pass through the lens are sensed by the photoreceptor cells of the retina and converted to nerve impulses (electric signals) for interpretation by the brain. All- trans -retinol is transported to the retina via the circulation and accumulates in retinal pigment epithelial (RPE) cells ( Figure 2 ) (5). Here, all- trans -retinol is esterified to form a retinyl ester, which can be stored. When needed, retinyl esters are broken apart ( hydrolyzed ) and isomerized to form 11- cis -retinol, which can be oxidized to form 11- cis -retinal. 11- cis -retinal can be shuttled across the interphotoreceptor space to the rod photoreceptor cell that is specialized for vision in low-light conditions and for detection of motion.
Coenzyme, q 10, deficiency
The ul does not apply to vitamin A derived from carotenoids. (More information vitamin a is a generic term that encompasses a number of related compounds (. Retinol and retinyl esters are verzorging often referred to as preformed vitamin. Retinol can be converted by the body to retinal, which can be in turn be oxidized to retinoic acid, the form of vitamin a known to regulate gene transcription. Retinol, retinal, retinoic acid, and related compounds are known as retinoids. Β-carotene and other food carotenoids that can be converted by the body into retinol are referred to as provitamin A carotenoids (see the article. Hundreds of different carotenoids are synthesized by plants, but only about 10 of them are capable of being converted to retinol (1). The following discussion will focus mainly on preformed vitamin A compounds and retinoic acid. Function, vitamin A compounds are essential fat-soluble molecules predominantly stored in the liver in the form of retinyl esters (e.g., retinyl palmitate).
(More information vitamin A prophylaxis appears to significantly reduce childhood mortality in regions at high risk of vitamin A deficiency. Further, high-dose vitamin A supplementation is widely recommended for children over six months of age when they are infected with measles while malnourished, immunodeficient, or are at risk of measles complications. Retinoic acid and analogs himalaya are used at pharmacological doses in the treatment of acute promyelocytic leukemia and various skin diseases. (More information animal food sources rich in preformed vitamin a include dairy products, fortified cereal, liver, and fish oils. Rich sources of provitamin A carotenoids include orange and green vegetables, such as sweet potato and spinach. (More information overconsumption of preformed vitamin A can be highly toxic and is especially contraindicated prior to and during pregnancy as it can result in severe birth defects. The tolerable upper intake level (. Ul ) for vitamin a in adults is set at 3,000 μg rae/day.
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Contents, español, summary, tillen vitamin a is a generic term that refers to fat-soluble compounds found as preformed vitamin A (retinol) in animal products and as provitamin A carotenoids in fruit and vegetables. The three active forms of vitamin a in the body are retinol, retinal, and retinoic acid. (More information vitamin a is involved in regulating the growth and specialization ( differentiation ) of virtually all cells in the human body. Vitamin A has important roles in embryonic development, organ formation during fetal development, normal immune functions, and eye development and vision. (More information vitamin A deficiency is a major cause of preventable blindness in the world. It is most prevalent among children and women of childbearing age. Vitamin A deficiency is associated with an increased susceptibility to infections, as well as to thyroid and skin disorders. The recommended dietary allowance rDA ) is 700 micrograms of retinol activity equivalents (μg rae day for women and 900 μg rae/day for men.