Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria

Gupta, Aayush; Dash, Kedarnath; Verma, Sampurna; Natarajan, Vivek T.; Singh, Archana

doi:10.2340/00015555-2030

Cited by 10 publications

(16 citation statements)

References 13 publications

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“…Briefly, bacteria was fixed in 2.5% gluteraldehyde and 4% paraformaldehyde, dehydrated in graded series of alcohol and embedded in Epon 812 resin. Ultrathin sections were cut and stained with uranyl acetate and lead citrate [ 68 ]. SEM images were procured using Carl Zeiss Evo LS scanning electron microscope, and TEM images were captured using Tecnai G2 20 twin (FEI) transmission electron microscope.…”

Section: Methodsmentioning

confidence: 99%

Depletion of M. tuberculosis GlmU from Infected Murine Lungs Effects the Clearance of the Pathogen

et al. 2015

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M. tuberculosis N-acetyl-glucosamine-1-phosphate uridyltransferase (GlmUMtb) is a bi-functional enzyme engaged in the synthesis of two metabolic intermediates N-acetylglucosamine-1-phosphate (GlcNAc-1-P) and UDP-GlcNAc, catalyzed by the C- and N-terminal domains respectively. UDP-GlcNAc is a key metabolite essential for the synthesis of peptidoglycan, disaccharide linker, arabinogalactan and mycothiols. While glmU Mtb was predicted to be an essential gene, till date the role of GlmUMtb in modulating the in vitro growth of Mtb or its role in survival of pathogen ex vivo / in vivo have not been deciphered. Here we present the results of a comprehensive study dissecting the role of GlmUMtb in arbitrating the survival of the pathogen both in vitro and in vivo. We find that absence of GlmUMtb leads to extensive perturbation of bacterial morphology and substantial reduction in cell wall thickness under normoxic as well as hypoxic conditions. Complementation studies show that the acetyl- and uridyl- transferase activities of GlmUMtb are independently essential for bacterial survival in vitro, and GlmUMtb is also found to be essential for mycobacterial survival in THP-1 cells as well as in guinea pigs. Depletion of GlmUMtb from infected murine lungs, four weeks post infection, led to significant reduction in the bacillary load. The administration of Oxa33, a novel oxazolidine derivative that specifically inhibits GlmUMtb, to infected mice resulted in significant decrease in the bacillary load. Thus our study establishes GlmUMtb as a strong candidate for intervention measures against established tuberculosis infections.

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Section: Methodsmentioning

confidence: 99%

Depletion of M. tuberculosis GlmU from Infected Murine Lungs Effects the Clearance of the Pathogen

et al. 2015

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“…Histologically, there is an increase or decrease of melanin pigmentation in the basal cells of hyperpigmented lesions or hypopigmented macules, respectively, and pigmentary incontinence can occasionally be observed by light microscopy . Other ultrastructural investigations in a patient with DUH with autosomal recessive inheritance revealed that melanocyte numbers were not affected; however, the number of melanosomes per melanocyte was significantly reduced in hypopigmented epidermis (both melanocytes and keratinocytes) compared with hyperpigmented lesions, suggesting that melanosome synthesis and maturation are affected in DUH.…”

Section: Dyschromatosis Universalis Hereditariamentioning

confidence: 97%

Updated review of genetic reticulate pigmentary disorders

Zhang

Yao

2017

Br J Dermatol

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Reticulate pigmentary disorders are a group of disorders characterized by hyper- and/or hypopigmented macules with varying sizes and amounts of pigment. Some of the disorders are heritable, such as Dowling-Degos disease, dyschromatosis universalis hereditaria, dyschromatosis symmetrica hereditaria, reticulate acropigmentation of Kitamura and X-linked reticulate pigmentary disorder. Although each condition possesses unique phenotypic characteristics and the prognosis for each is somewhat different, there is a large degree of overlap between the disorders and therefore they are difficult to differentiate in the clinical setting. This updated review provides a clinical and molecular delineation of these genetic reticulate pigmentary disorders and aims to establish a concise diagnostic strategy to allow clinical dermatologists to make an accurate diagnosis, as well as to provide useful information for clinical and genetic counselling.

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“…As seen on electron microscopy, the number of melanosomes in melanocytes and keratinocytes is significantly reduced in hypopigmented lesions compared with hyperpigmented lesions and normal skin. 6,9 ABCB6 belongs to the family of adenosine triphosphate-binding cassette transporters, which transport various molecules across extracellular and intracellular membranes. 6 The ABCB6 gene is located either on 6q242-q252 or 12q21-q23, is expressed in lysosomes and early melanosomes of melanocytes, and regulates the early steps of melanogenesis.…”

Section: Discussionmentioning

confidence: 99%

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family

Sara¹,

Nouf²,

Khalid

et al. 2022

JAAD Case Reports

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Ultrastructural Investigations in an Autosomal Recessively Inherited Case of Dyschromatosis Universalis Hereditaria

Cited by 10 publications

References 13 publications

Depletion of M. tuberculosis GlmU from Infected Murine Lungs Effects the Clearance of the Pathogen

Depletion of M. tuberculosis GlmU from Infected Murine Lungs Effects the Clearance of the Pathogen

Updated review of genetic reticulate pigmentary disorders

A novel mutation in ABCB6 associated with dyschromatosis universalis hereditaria in a Saudi family

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