Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants.

Mild Zellweger syndrome due to functionally confirmed novel PEX1 variants. J Appl Genet. 2019 Oct 18;: Authors: Lipiński P, Stawiński P, Rydzanicz M, Wypchło M, Płoski R, Stradomska TJ, Jurkiewicz E, Ferdinandusse S, Wanders RJA, Vaz FM, Tylki-Szymańska A Abstract Zellweger spectrum disorders (ZSD) constitute a group of rare autosomal recessive disorders characterized by a defect in peroxisome biogenesis due to mutations in one of 13 PEX genes. The broad clinical heterogeneity especially in late-onset presenting patients and a mild phenotype complicates and delays the diagnostic process. Here, we report a case of mild ZSD, due to novel PEX1 variants. The patient presented with an early hearing loss, bilateral cataracts, and leukodystrophy on magnetic resonance (MR) images. Normal results of serum very-long-chain fatty acids (VLCFA) and phytanic acid were found. Molecular diagnostics were performed to uncover the etiology of the clinical phenotype. Using whole exome sequencing, there have been found two variants in the PEX1 gene-c.3450T>A (p.Cys1150*) and c.1769T>C (p.Leu590Pro). VLCFA measurement in skin fibroblasts and C26:0-lysoPC in dried blood spot therefore was performed. Both results were in line with the diagnosis of ZSD. To conclude, normal results of routine serum VLCFA and branched-chain fatty acid measurement do not exclude mild forms of ZSD. The investigation of C26:0-lysoPC should be included in the diagnostic work-up in patients ...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research

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Conclusions: The diffusion of heavy-metal protein carriers within the anterior lens capsule is not dependent on age, but it is dependent on the size of the protein. The permeability of the lens capsule to these heavy-metal protein carriers increases with age, suggesting that there will be a higher concentration of heavy metals in the older lens. This behavior may favor the formation of cataract, because heavy metals enhance protein oxidation through the Fenton reaction. PMID: 31741652 [PubMed - in process]
Source: Molecular Vision - Category: Molecular Biology Tags: Mol Vis Source Type: research
Myopia is a very common condition in children, often progressing rapidly and triggering earlier onset of other eye conditions, such as cataracts and detached retina. Cooper Vision, a company out of Lake Forest, California, just won FDA clearance f...
Source: Medgadget - Category: Medical Devices Authors: Tags: Ophthalmology Source Type: blogs
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Source: Acta Diabetologica - Category: Endocrinology Source Type: research
ConclusionsOngoing study of myotonic dystrophy type 1-associated hypogammaglobulinemia using contemporary tools of genomic medicine may help to further delineate the pathogenesis of this entity.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
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Source: MDDI - Category: Medical Devices Authors: Tags: Business Source Type: news
Apoptosis-Inducing Factor Mitochondria-associated-1 gene (AIFM1) encodes a mitochondrial flavin adenine dinucleotide-dependent nicotinamide oxidoreductase, which has a biological role in oxidative phosphorylation (OXPHOS) and in apoptosis pathway [1]. AIFM1 mutations have been reported to be associated with various neurological diseases, including Cowchock syndrome (OMIM 310490) [2], X-linked recessive Charcot-Marie-Tooth disease-4 (CMTX4), X-linked deafness-5 (DFNX5; OMIM 300614) [3], and hypomyelinating leukodystrophy and spondylometaphyseal dysplasia (H-SMD) [4].
Source: Journal of the Neurological Sciences - Category: Neurology Authors: Tags: Letter to the Editor Source Type: research
Conditions:   Cataract;   Analgesia;   Ophthalmological Disorder Interventions:   Drug: lignocaine;   Procedure: Phacoemulsyfication;   Procedure: Intraocular lens implantation;   Behavioral: Visual Analog Scale for Pain;   Behavioral: Brief Pain Inventory-short form;   Diagnostic Test: Best corrected visual acuity measurment;   Diagnostic Test: Slit-lam p biomicroscopy Sponsor:   Medical University of Lublin Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
Nature Cell Biology 18, 132 (2016). doi:10.1038/ncb3271 Authors: Jeremy M. Baskin, Xudong Wu, Romain Christiano, Michael S. Oh, Curtis M. Schauder, Elisabetta Gazzerro, Mirko Messa, Simona Baldassari, Stefania Assereto, Roberta Biancheri, Federico Zara, Carlo Minetti, Andrea Raimondi, Mikael Simons, Tobias C. Walther, Karin M. Reinisch &Pietro De Camilli Genetic defects in myelin formation and maintenance cause leukodystrophies, a group of white matter diseases whose mechanistic underpinnings are poorly understood. Hypomyelination and congenital cataract (HCC), one of these disorders, is caused by mutations in ...
Source: Nature Cell Biology - Category: Cytology Authors: Tags: Letter Source Type: research
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Source: Clinical Neuroradiology - Category: Neurology Source Type: research
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