Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0349506 (photosensitivity)
 4,145 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A human disorder caused by mutation in nonmuscle actin has not been reported. We report here a variant of nonmuscle actin in a female patient with recurrent infections, photosensitivity, and mental retardation. She also had abnormalities in neutrophil chemotaxis, superoxide production, and membrane potential response. Two-dimensional PAGE analysis of proteins from neutrophils and other cell types from this patient demonstrated a unique protein spot migrating at 42 kDa with pI shifted slightly to neutral relative to normal beta- and gamma-actin. Digestion peptide mapping and Western blotting showed this spot to be an abnormal actin. A full-length cDNA library was constructed by using mRNA from patient's cells and cDNA encoding the mutant beta-actin molecule was identified by an in vitro translation method. Sequencing of the clones demonstrated a G-1174 to A substitution, predicting a glutamic acid-364 to lysine substitution in beta-actin and eliminating a HinfI DNase restriction site found in normal beta-actin sequence. By HinfI digestion and by sequencing, the mutation in one allele of patient's genomic DNA was confirmed. Though no defect in cell-free polymerization of actin was detected, this defect lies in a domain important for binding to profilin and other actin-regulatory molecules. In fact, the mutant actin bound to profilin less efficiently than normal actin did. Heterozygous expression of mutant beta-actin in neutrophils and other cells of this patient may act in a dominant-negative fashion to adversely affect cellular activities dependent on the function of nonmuscle actin.
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PMID:A heterozygous mutation of beta-actin associated with neutrophil dysfunction and recurrent infection. 1041 37

The proteinoid cells are assembled of thermal polymers of amino acids. Typically, an appropriate mixture of amino acids containing aspartic or glutamic acid is heated at 190 degrees C for 6 h, stirred with water for 2 h, dialyzed during 2 d, and lyophilized. Spheroidal cells are made from such polymer by dissolving it in the water by boiling, and then cooling. Many of them can be made by sonication at room temperature. These artificial cells, ranging from microns to tens of microns in diameter (depending on composition and preparation), have double membranes and various internal compositions. The spherules can microencapsulate dyes, oxidant-reductant compounds or acceptor-donor substances, and can be packed together. Such spherules display electrical polarization and electrical discharges and respond to intra- and extracellular ionic and electric influence upon membrane and action potential. These properties arise from the double membrane structure, asymmetric membrane permeability, and channeling phenomena. Such features as exponential dependence of the steady-state conductance and capacitance as well as negative resistance of the membrane seem to be responsible for the flip-flop alternations of the membrane polarization, rhythmic electric oscillations, and all-or-none action potentials. The presence of such chromophores as pteridine and flavin in polymers constituting these cells is responsible for their photosensitivity.
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PMID:Excitable artificial cells of proteinoid. 1153 91

The planarian Dugesia japonica has a relatively well-organized CNS that includes the brain and the ventral nerve cords, and also has high regenerative capacity derived from pluripotent stem cells present in the mesenchymal space throughout the body. Glutamic acid decarboxylase (GAD) is the enzyme that converts glutamic acid into GABA, a major inhibitory neurotransmitter. In this study, we first identified a full-length GAD gene (DjGAD, D. japonica glutamic acid decarboxylase) in the planarian D. japonica. Whole-mount in situ hybridization revealed that a few cells expressed DjGAD mRNA, and these cells were located in both the head and pharynx regions. In order to examine the distribution pattern of DjGAD protein, we generated a mouse monoclonal anti-DjGAD antibody. The distribution pattern of DjGAD protein was very similar to that of DjGAD mRNA. A neural network of DjGAD-immunopositive cells was also clearly observed. In addition, we examined the immunofluorescence during the process of regeneration of the head from the tail piece. At day 3 of regeneration, we could detect newly formed DjGAD-immunopositive neurons in the anterior region. During day 5-7 of regeneration, reconstruction of the neural network of DjGAD-immunopositive cells occurred. DjGAD-immunoreactivity was lost in DjGAD-knockdown planarians obtained by RNA interference. The amount of GABA was significantly decreased in DjGAD-knockdown planarians, which lost negative phototaxis but not locomotion activity. These results suggest that DjGAD is clearly required for GABA biosynthesis and photosensitivity in planarians, and expression of DjGAD as detected by anti-DjGAD antibody is a useful marker for GABAergic neurons.
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PMID:Identification of glutamic acid decarboxylase gene and distribution of GABAergic nervous system in the planarian Dugesia japonica. 1844 Jan 52

Parietopsin is a nonvisual green light-sensitive opsin closely related to vertebrate visual opsins and was originally identified in lizard parietal eye photoreceptor cells. To obtain insight into the functional diversity of opsins, we investigated by UV-visible absorption spectroscopy the molecular properties of parietopsin and its mutants exogenously expressed in cultured cells and compared the properties to those of vertebrate and invertebrate visual opsins. Our mutational analysis revealed that the counterion in parietopsin is the glutamic acid (Glu) in the second extracellular loop, corresponding to Glu181 in bovine rhodopsin. This arrangement is characteristic of invertebrate rather than vertebrate visual opsins. The photosensitivity and the molar extinction coefficient of parietopsin were also lower than those of vertebrate visual opsins, features likewise characteristic of invertebrate visual opsins. On the other hand, irradiation of parietopsin yielded meta-I, meta-II, and meta-III intermediates after batho and lumi intermediates, similar to vertebrate visual opsins. The pH-dependent equilibrium profile between meta-I and meta-II intermediates was, however, similar to that between acid and alkaline metarhodopsins in invertebrate visual opsins. Thus, parietopsin behaves as an "evolutionary intermediate" between invertebrate and vertebrate visual opsins.
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PMID:Photochemical nature of parietopsin. 2230 23