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Neurology India 2017
Topics: Diagnosis, Differential; Fatal Outcome; Fever; Hair; Hearing Loss, Sensorineural; Humans; Infant; Magnetic Resonance Imaging; Male; Piebaldism; Pigmentation Disorders; Seizures; Tomography, X-Ray Computed
PubMed: 28681765
DOI: 10.4103/neuroindia.NI_762_16 -
Brain Sciences Jun 2017Idiopathic Parkinson's disease (PD) is a complex disease caused by multiple, mainly unknown, genetic and environmental factors. The Ventral root avulsion 1 () locus on...
Idiopathic Parkinson's disease (PD) is a complex disease caused by multiple, mainly unknown, genetic and environmental factors. The Ventral root avulsion 1 () locus on rat chromosome 8 includes the Glutathione S-transferase alpha 4 () gene and has been identified in crosses between Dark Agouti (DA) and Piebald Virol Glaxo (PVG) rat strains as being associated to neurodegeneration after nerve and brain injury. The protein clears lipid peroxidation by-products, a process suggested to being implicated in PD. We therefore investigated whether PVG alleles in are neuroprotective in a toxin-induced model of PD and if this effect is coupled to . We performed unilateral 6-hydroxydopamine (6-OHDA) partial lesions in the striatum and compared the extent of neurodegeration in parental (DA) and congenic (DA.VRA1) rats. At 8 weeks after 6-OHDA lesion, DA.VRA1 rats displayed a higher density of remaining dopaminergic fibers in the dorsolateral striatum compared to DA rats (44% vs. 23%, < 0.01), indicating that alleles derived from the PVG strain protect dopaminergic neurons from 6-OHDA toxicity. gene expression levels in the striatum and midbrain were higher in DA.VRA1 congenic rats compared to DA at 2 days post-lesion ( < 0.05). The GSTA4 protein co-localized with astrocytic marker GFAP, but not with neuronal marker NeuN or microglial marker IBA1, suggesting astrocyte-specific expression. This is the first report on protective effects on dopaminergic neurodegeneration and encourages further studies on in relation to PD susceptibility.
PubMed: 28672859
DOI: 10.3390/brainsci7070073 -
Bioscience Reports Apr 2017Frog skin secretions contain complex peptidomes and peptidic protease inhibitors that are one of the biologically and structurally described groups of components. In the...
Frog skin secretions contain complex peptidomes and peptidic protease inhibitors that are one of the biologically and structurally described groups of components. In the present study, by use of molecular 'shotgun' cloning and LC MS/MS fractionation sequencing, a novel Bowman-Birk-type heptadecapeptide (AALKGCWTKSIPPKPCF-amide), named rypsin nhibitor (OSTI), with a canonical Cys-Cys disulfide bridge, was isolated and identified in piebald odorous frog () skin secretion. A synthetic replicate of OSTI-exhibited trypsin inhibitory activity with a value of 0.3 ± 0.04 nM and also a tryptase inhibitory effect with a of 2.5 ± 0.6 μM. This is the first time that this property has been reported for a peptide originating from amphibian sources. In addition, substituting lysine (K) with phenylalanine (F) at the presumed P1 position, completely abrogated the trypsin and tryptase inhibition, but produced a strong chymotrypsin inhibition with a of 1.0 ± 0.1 μM. Thus, the specificity of this peptidic protease inhibitor could be optimized through modifying the amino acid residue at the presumed P1 position and this novel native OSTI, along with its analogue, [Phe]-OSTI, have expanded the potential drug discovery and development pipeline directed towards alleviation of serine protease-mediated pathologies.
Topics: Amino Acid Sequence; Animals; Base Sequence; Chromatography, High Pressure Liquid; Cloning, Molecular; DNA, Complementary; Oligopeptides; Protease Inhibitors; Ranidae; Skin; Trypsin; Trypsin Inhibitors; Tryptases
PubMed: 28356487
DOI: 10.1042/BSR20160593 -
The Pan African Medical Journal 2016Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal... (Review)
Review
Piebaldism is a rare autosomal dominant disorder characterized by an abnormal congenital skin pigmentation causing hypopigmented areas. It is due to an abnormal melanocytes development. It usually affects only the skin, but it may be associated with other anomalies or confused with other differential diagnoses. We report the case of a 5-year old boy with piebaldism having a family history of dermatologic phenotype without other alterations. We here highlight the pathogenesis, clinical manifestations, differential diagnosis as well as the management techniques and new therapeutic trials.
Topics: Child, Preschool; Diagnosis, Differential; Humans; Male; Melanocytes; Piebaldism; Skin
PubMed: 28292117
DOI: 10.11604/pamj.2016.25.155.10499 -
PloS One 2017Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with...
Southern right whales (SRWs, Eubalena australis) are polymorphic for an X-linked pigmentation pattern known as grey morphism. Most SRWs have completely black skin with white patches on their bellies and occasionally on their backs; these patches remain white as the whale ages. Grey morphs (previously referred to as partial albinos) appear mostly white at birth, with a splattering of rounded black marks; but as the whales age, the white skin gradually changes to a brownish grey color. The cellular and developmental bases of grey morphism are not understood. Here we describe cellular and ultrastructural features of grey-morph skin in relation to that of normal, wild-type skin. Melanocytes were identified histologically and counted, and melanosomes were measured using transmission electron microscopy. Grey-morph skin had fewer melanocytes when compared to wild-type skin, suggesting reduced melanocyte survival, migration, or proliferation in these whales. Grey-morph melanocytes had smaller melanosomes relative to wild-type skin, normal transport of melanosomes to surrounding keratinocytes, and normal localization of melanin granules above the keratinocyte nuclei. These findings indicate that SRW grey-morph pigmentation patterns are caused by reduced numbers of melanocytes in the skin, as well as by reduced amounts of melanin production and/or reduced sizes of mature melanosomes. Grey morphism is distinct from piebaldism and albinism found in other species, which are genetic pigmentation conditions resulting from the local absence of melanocytes, or the inability to synthesize melanin, respectively.
Topics: Animals; Cell Count; Female; Male; Melanocytes; Phenotype; Skin; Whales
PubMed: 28170433
DOI: 10.1371/journal.pone.0171449 -
Pastoralism : Research, Policy and... 2017Animal breeds are the diverse outcome of the thousands-year-long process of livestock domestication. Many of these breeds are piebald, resulting from the artificial...
Animal breeds are the diverse outcome of the thousands-year-long process of livestock domestication. Many of these breeds are piebald, resulting from the artificial selection by pastoralists of animals bearing a genetic condition known as leucism, and selected for their productive, behavioural, or aesthetical traits. Piebald dromedary camels have not been studied or discussed before, and their same existence is often overlooked. Based on fieldwork in Western Sahara, direct observations across Northern and East Africa and the Middle East, and a literature review, we address the morphological and behavioural traits, geographical distribution, taxonomy, and material and cultural importance of piebald (painted) camels. They are a hundreds-year-old camel breed used for caravans, as mounts, and for aesthetical and cultural reasons across Sudan, Niger, Mali, Mauritania, Western Sahara, and Morocco. While they are increasingly bred out of a pastoral context for tourism and entertainment in the Canary Islands, mainland Europe, and the USA, in part of their original African range, piebald camels are under threat due to wars, droughts, and demise of pastoral livelihoods. More research is needed about these 'beautiful and dignified' animals.
PubMed: 32269746
DOI: 10.1186/s13570-017-0075-3 -
Folia Histochemica Et Cytobiologica 2016To investigate whether the membrane-associated transporter protein SLC45A2 is differentially expressed in the skin of sheep with different coat colors and to determine...
INTRODUCTION
To investigate whether the membrane-associated transporter protein SLC45A2 is differentially expressed in the skin of sheep with different coat colors and to determine its correlation with coat color establishment in sheep.
MATERIAL AND METHODS
The expression of SLC45A2 in sheep skin samples with different coat colors was qualitatively and quantitatively analyzed by PCR amplification, RT-PCR, immunohistochemical staining and Western blotting.
RESULTS
A 193-bp SLC45A2 CDS sequence was successfully amplified from sheep skin samples with diverse coat colors. RT-PCR analysis revealed that SLC45A2 mRNA was expressed in all sheep skin samples tested, with relative expression levels of 512.74 ± 121.51 in black skin, 143.38 ± 119.31 and 1.36 ± 0.09 in black dots and white dots of piebald skin, respectively, and 1.02 ± 0.23 in white skin (p < 0.01**). Positive SLC45A2 protein bands were also detected in all skin samples by Western blot analysis, with relative expression levels of 0.85 ± ± 0.17** in black skin, 0.60 ± 0.05** and 0.34 ± 0.07 in black dots and white dots of piebald skin, respectively, and 0.20 ± 0.05 in white skin (p < 0.01**). Immunohistochemical assays revealed that SLC45A2 was expressed in the hair follicle matrix, the inner and outer root sheath, and the dermal papilla in the skin tissues with different coat colors. These patterns were quantified by optical density (OD) analysis, which yielded relative expression levels of 0.23 ± 0.11 in black skin, 0.19 ± 0.09 and 0.10 ± 0.03 in black dots and white dots of piebald skin, respectively, and 0.08 ± 0.01 in white skin (p < 0.05*).
CONCLUSION
SLC45A2 is detectably expressed in sheep skin of all coat colors, though at significantly different levels. SLC45A2 may participate in the establishment of coat color by regulating the synthesis and trafficking of melanin.
Topics: Animals; Base Sequence; Blotting, Western; Gene Expression; Hair Color; Hair Follicle; Immunohistochemistry; Membrane Transport Proteins; Polymerase Chain Reaction; RNA, Messenger; Real-Time Polymerase Chain Reaction; Sheep; Sheep, Domestic; Skin; Skin Pigmentation
PubMed: 27654014
DOI: 10.5603/FHC.a2016.0015 -
British Journal of Haematology Oct 2016
Topics: Child; Hair; Hematopoietic Stem Cell Transplantation; Humans; Immunologic Deficiency Syndromes; Lymphohistiocytosis, Hemophagocytic; Male; Microscopy; Piebaldism; Pigmentation Disorders; Primary Immunodeficiency Diseases; Siblings; Transplantation, Homologous
PubMed: 27434021
DOI: 10.1111/bjh.14252 -
World Journal of Nephrology May 2016To determine whether complement membrane attack complex (C5b-9) has a pathogenic role in tubulointerstitial injury in a renal disease model characterized by acute highly...
AIM
To determine whether complement membrane attack complex (C5b-9) has a pathogenic role in tubulointerstitial injury in a renal disease model characterized by acute highly selective proteinuria.
METHODS
Protein-overload nephropathy (PON) was induced in adult female Piebald-Viral-Glaxo rats with or without complement C6 deficiency (C6(-) and C6(+)) by daily intraperitoneal injections of bovine serum albumin (BSA, 2 g/d), and examined on days 2, 4 and 8.
RESULTS
Groups with PON developed equivalent levels of heavy proteinuria within 24 h of BSA injection. In C6(+) rats with PON, the tubulointerstitial expression of C5b-9 was increased and localized predominantly to the basolateral surface of tubular epithelial cells (TECs), whereas it was undetectable in C6(-) animals. TEC proliferation (as assessed by the number of BrdU+ cells) increased by more than 50-fold in PON, peaking on day 2 and declining on days 4 to 8. There was a trend for a reduction in the number of BrdU+ TECs on day 4 in the C6(-) PON group (P = 0.10 compared to C6(+)) but not at any other time-point. Kidney enlargement, TEC apoptosis (TUNEL(+) cells) and markers of tubular injury (tubule dilatation, loss of TEC height, protein cast formation) were not altered by C6 deficiency in PON. Interstitial monocyte (ED-1+ cell) accumulation was partially reduced in C6(-) animals with PON on day 4 (P = 0.01) but there was no change in myofibroblast accumulation.
CONCLUSION
These data suggest that C5b-9 does not mediate tubulointerstitial injury in acute glomerular diseases characterized by selective proteinuria.
PubMed: 27152265
DOI: 10.5527/wjn.v5.i3.288 -
The Journal of Allergy and Clinical... Aug 2016
Topics: Adaptor Proteins, Signal Transducing; Albinism; Amino Acid Substitution; Consanguinity; Female; Genes, Recessive; Humans; Immunologic Deficiency Syndromes; Killer Cells, Natural; Lymphohistiocytosis, Hemophagocytic; Male; Membrane Proteins; Mutation, Missense; Pedigree; Piebaldism; Primary Immunodeficiency Diseases; Protein Binding; rab27 GTP-Binding Proteins
PubMed: 27016801
DOI: 10.1016/j.jaci.2015.12.1337