Lipoprotein deficiency disorders

Lloyd, June K.

doi:10.1016/s0300-595x(73)80030-1

Cited by 9 publications

(5 citation statements)

References 21 publications

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“…A very low plasma cholesterol accompanied by virtually absent high density lipoproteins would appear to be diagnostic, but neither is pathognomonic by itself. Marked hypocholesterolaemia is also characteristic of abetalipoproteinaemia, in which there is decreased absorption of dietary lipids, and jejunal storage is limited to the surface epithelial cells (Lloyd, 1969). Similarly, the absence of cx-lipoprotein has been reported in a family with serum cholesterol ester deficiency (Gjone and Norum, 1968) but these patients had raised levels of total plasma cholesterol, with abnormally little in the esterified form.…”

Section: Discussionmentioning

confidence: 88%

Pathology of Tangier disease

Bale¹,

Clifton‐Bligh²,

Benjamin³

et al. 1971

J Clin Pathol

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Two cases of Tangier disease are described in children from families unrelated to each other. Necropsy in one case, the first to be reported in this condition, showed large collections of cholesterol-laden macrophages in tonsils, thymus, lymph nodes, and colon, and moderate numbers in pyelonephritic scars and ureter. As the storage cells may be scanty in marrow, jejunum, and liver, the rectum is suggested as the site of choice for biopsy.The diagnosis was confirmed by demonstrating the absence of α-lipoproteins from the plasma of the living child, and by finding low plasma levels in both parents of both cases. The disease can be distinguished from other lipidoses by differences in the predominant sites of storage, staining reactions, and serum lipid studies.

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Section: Discussionmentioning

confidence: 88%

Pathology of Tangier disease

Bale¹,

Clifton‐Bligh²,

Benjamin³

et al. 1971

J Clin Pathol

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“…Vitamin E deficiencies are rare, but cases have been seen in children diagnosed with abetalipoproteinemia and familial hypobetalipoproteinaemia. These syndromes are lipoprotein deficiency disorders causing a large amount of fat to build up in the blood due to a lack of a protein that breaks down the fat molecules ( Lloyd, 1973 ). A very small study of children diagnosed with chronic cholestasis and low blood serum vitamin E and A concentrations all developed abnormal flash ERGs and half had abnormal visual evoked potentials (VEPs; Bishara et al, 1982 ).…”

Section: Vitamin E Deficiencymentioning

confidence: 99%

Molecular Mechanisms Underlying the Therapeutic Role of Vitamin E in Age-Related Macular Degeneration

et al. 2022

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The eye is particularly susceptible to oxidative stress and disruption of the delicate balance between oxygen-derived free radicals and antioxidants leading to many degenerative diseases. Attention has been called to all isoforms of vitamin E, with α-tocopherol being the most common form. Though similar in structure, each is diverse in antioxidant activity. Preclinical reports highlight vitamin E’s influence on cell physiology and survival through several signaling pathways by activating kinases and transcription factors relevant for uptake, transport, metabolism, and cellular action to promote neuroprotective effects. In the clinical setting, population-based studies on vitamin E supplementation have been inconsistent at times and follow-up studies are needed. Nonetheless, vitamin E’s health benefits outweigh the controversies. The goal of this review is to recognize the importance of vitamin E’s role in guarding against gradual central vision loss observed in age-related macular degeneration (AMD). The therapeutic role and molecular mechanisms of vitamin E’s function in the retina, clinical implications, and possible toxicity are collectively described in the present review.

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“…Lipoprotein particles serve as vehicles for cholesterol transport throughout the body and function to regulate intracellular cholesterol levels within a tight physiologic range, as an excess or insufficiency is typically deleterious to normal cellular function [28,29].…”

Section: Genetic Alterations Affecting Cholesterol Uptake and Their Imentioning

confidence: 99%

Genetic Alterations Affecting Cholesterol Metabolism and Human Fertility1

DeAngelis

Roy-O’Reilly

Rodríguez

2014

Biology of Reproduction

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Single nucleotide polymorphisms (SNPs) represent genetic variations among individuals in a population. In medicine, these small variations in the DNA sequence may significantly impact an individual's response to certain drugs or influence the risk of developing certain diseases. In the field of reproductive medicine, a significant amount of research has been devoted to identifying polymorphisms which may impact steroidogenesis and fertility. This review discusses current understanding of the effects of genetic variations in cholesterol metabolic pathways on human fertility that bridge novel linkages between cholesterol metabolism and reproductive health. For example, the role of the low-density lipoprotein receptor (LDLR) in cellular metabolism and human reproduction has been well studied, whereas there is now an emerging body of research on the role of the high-density lipoprotein (HDL) receptor scavenger receptor class B type I (SR-BI) in human lipid metabolism and female reproduction. Identifying and understanding how polymorphisms in the SCARB1 gene or other genes related to lipid metabolism impact human physiology is essential and will play a major role in the development of personalized medicine for improved diagnosis and treatment of infertility.

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Lipoprotein deficiency disorders

Cited by 9 publications

References 21 publications

Pathology of Tangier disease

Pathology of Tangier disease

Molecular Mechanisms Underlying the Therapeutic Role of Vitamin E in Age-Related Macular Degeneration

Genetic Alterations Affecting Cholesterol Metabolism and Human Fertility1

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