ELOVL4: Very long-chain fatty acids serve an eclectic role in mammalian health and function

Publication date: Available online 25 October 2018Source: Progress in Retinal and Eye ResearchAuthor(s): Blake R. Hopiavuori, Robert E. Anderson, Martin-Paul AgbagaAbstractELOngation of Very Long chain fatty acids-4 (ELOVL4) is an elongase responsible for the biosynthesis of very long chain (VLC, ≥C28) saturated (VLC-SFA) and polyunsaturated (VLC-PUFA) fatty acids in brain, retina, skin, Meibomian glands, and testes. Fascinatingly, different mutations in this gene have been reported to cause vastly different phenotypes in humans. Heterozygous inheritance of seven different mutations in the coding sequence and 5’ untranslated region of ELOVL4 causes autosomal dominant Stargardt-like macular dystrophy (STGD3), while homozygous inheritance of three more mutant variants causes severe seizures with ichthyosis, hypertonia, and even death. Some recent studies have described heterozygous inheritance in yet another three mutant ELOVL4 variants, two that cause spinocerebellar ataxia-34 (SCA34) with erythrokeratodermia (EKV) and one that causes SCA34 without EKV. We identified the specific enzymatic reactions catalyzed by ELOVL4 and, using a variety of genetically engineered mouse models, have actively searched for the mechanisms by which ELOVL4 impacts neural function and health. In this review, we critically compare and contrast the various animal model and case studies involving ELOVL4 deficiency via either mutation or deletion, and the resulting consequences on neuronal hea...
Source: Progress in Retinal and Eye Research - Category: Opthalmology Source Type: research

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Publication date: Available online 20 October 2019Source: Microvascular ResearchAuthor(s): Wayne Smith, Konstantin E. Kotliar, Leandi Lammertyn, Nthai E. Ramoshaba, Walthard Vilser, Hugo W. Huisman, Aletta E. SchutteAbstractPurposeGlobally, a detrimental shift in cardiovascular disease risk factors and a higher mortality level are reported in some black populations. The retinal microvasculature provides early insight into the pathogenesis of systemic vascular diseases, but it is unclear whether retinal vessel calibers and acute retinal vessel functional responses differ between young healthy black and white adults.MethodsW...
Source: Microvascular Research - Category: Biochemistry Source Type: research
Recent studies indicate therapeutic benefits of electrical stimulation in cases of specific ophthalmic diseases that are associated with dysfunctional ocular microcirculation. This suggests effects of electrical stimulation on vascular functions. In the present study, we investigated the effects of electrical stimulation on retinal vessel reactions using dynamic vessel analysis (DVA). Eighty healthy subjects were randomly assigned to one of three groups receiving electrical stimulation with different current intensities: 400 μA (n = 26); 800 μA (n = 27); 1200 μA (n = 27). The electrode montage for electrical stimu...
Source: Frontiers in Human Neuroscience - Category: Neuroscience Source Type: research
ConclusionsWe conclude that mechanisms driving OA (which is defined as ‘impaired visually guided movement’) may underpin severe motor impairment, in autism. CVIS and VMIS may be useful indicators of severity of spatial cognitive impairment.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research
The objective of this study was to assess respiratory muscle quality and function in DMD using magnetic resonance imaging and to determine the relationship to clinical respiratory function.MethodsIndividuals with DMD (n = 36) and unaffected controls (n = 12) participated in this cross sectional magnetic resonance imaging study. Participants underwent dynamic imaging of the thorax to assess diaphragm and chest wall mobility and chemical shift-encoded imaging of the chest and abdomen to determine fatty infiltration of the accessory respiratory muscles. Additionally, clinical pulmonary function mea...
Source: Journal of Neurology - Category: Neurology Source Type: research
This article aims to evaluate the effectiveness, security, and performance difficulty of GIB in patients with pelvic and perineal oncological pain.MethodsA retrospective study between January 2016 and August 2017. Patients with poorly controlled pelvic oncological pain and patients experimenting opioid side effects in which GIB was performed ambulatory were included. Prognostic GIB was performed, under echographic and fluoroscopic control, with local anesthetic and corticoid. The neurolytic block was performed under fluoroscopic guidance. The technique was performed by the same anesthetist with pain management competence. ...
Source: Supportive Care in Cancer - Category: Cancer & Oncology Source Type: research
OBJECTIVE: To outline the incidence of posterior segment injuries related to soccer-ball blunt trauma in children. METHODS: Retrospective search of the computerized hospital medical database between the years 2007 and 2017. All pediatric trauma cas...
Source: SafetyLit - Category: International Medicine & Public Health Tags: Age: Adolescents Source Type: news
Male sexual dysfunction after aortoiliac surgery is a distressing complication. Erectile dysfunction and ejaculatory function postoperatively are mainly related to the methods of exposure and dissection of the aorta and iliac arteries because it is the preferred passage area of the upper hypogastric plexus, the main crossroads of the pathways of sympathetic nerves with pelvic intent. The purpose was to determine the incidence of erectile dysfunction in patients with aortoiliac occlusive disease and to compare the change in erectile function after open surgery and endovascular repair.
Source: Journal of Vascular Surgery - Category: Surgery Authors: Source Type: research
Multicellular organisms evolved via repeated functional divergence of transcriptionally related sister cell types, but the mechanisms underlying sister cell type divergence are not well understood. Here, we study a canonical pair of sister cell types, retinal photoreceptors and bipolar cells, to identify the keycis-regulatory features that distinguish them. By comparing open chromatin maps and transcriptomic profiles, we found that while photoreceptor and bipolar cells have divergent transcriptomes, they share remarkably similarcis-regulatory grammars, marked by enrichment of K50 homeodomain binding sites. However, cell cl...
Source: eLife - Category: Biomedical Science Tags: Chromosomes and Gene Expression Genetics and Genomics Source Type: research
Volume 47, Issue 1, December 2019, Page 4059-4065 .
Source: Artificial Cells, Blood Substitutes, and Biotechnology - Category: Biotechnology Authors: Source Type: research
ConclusionAlthough both IFX and ADA are efficacious in refractory BD ‐related uveitis, ADA appears to be associated with better outcomes than IFX after 1 year of follow‐up.
Source: Arthritis and Rheumatology - Category: Rheumatology Authors: Tags: Original Article Source Type: research
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