Studies of Red-Cell Stromal Lipids in Tay-Sachs Disease and Other Lipidoses*

Balint, John A.; Spitzer, Hugh L.; Kyriakides, Emilios C.

doi:10.1172/jci104852

Cited by 23 publications

(6 citation statements)

References 21 publications

(17 reference statements)

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“…It was further shown that this decrease in red blood cell (RBC) sphingomyelin could be used to detect carriers of the Tay-Sachs' trait (2). Similar changes, however, have been noted by us (1) and others (3) in Niemann-Pick disease and Gaucher's disease. In an attempt to determine whether this decrease in Received for publication 4 March 1968 and in revised form 17 April 1968. stromal phospholipid was secondary to a reduction of lipoprotein in the red cell membrane, we determined protein nitrogen and amino acid composition of hemoglobin-free red cell ghosts in normal subjects and in patients with Tay-Sachs disease.…”

Section: Introductionsupporting

confidence: 62%

Studies of red cell stromal proteins in Tay-Sachs disease

Balint¹,

Kyriakides²

1968

J. Clin. Invest.

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Section: Introductionsupporting

confidence: 62%

Studies of red cell stromal proteins in Tay-Sachs disease

Balint¹,

Kyriakides²

1968

J. Clin. Invest.

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“…The red blood cell membrane of the TSD patient contains many alterations, including changes in lipids, glycoprotein and protein levels [51-55], and altered erythrocyte membrane composition has been reported to increase susceptibility to oxidative stress and echinocytosis [56, 57]. This change in RBC morphology is associated with apoptosis and phagocytosis by macrophages and is a potential etiology for anemia [58, 59].…”

Section: Discussionmentioning

confidence: 99%

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

Bradbury

Gray‐Edwards

Shirley

et al. 2015

Experimental Neurology

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The GM2 gangliosidoses, Tay-Sachs disease (TSD) and Sandhoff disease (SD), are progressive neurodegenerative disorders that are caused by a mutation in the enzyme β-N-acetylhexosaminidase (Hex). Due to the recent emergence of novel experimental treatments, biomarker development has become particularly relevant in GM2 gangliosidosis as an objective means to measure therapeutic efficacy. Here we describe blood, cerebrospinal fluid (CSF), magnetic resonance imaging (MRI), and electrodiagnostic methods for evaluating disease progression in the feline SD model and application of these approaches to assess AAV-mediated gene therapy. SD cats were treated by intracranial injections of the thalami combined with either the deep cerebellar nuclei or a single lateral ventricle using AAVrh8 vectors encoding feline Hex. Significantly altered in untreated SD cats, blood and CSF based biomarkers were normalized after AAV gene therapy. Also reduced after treatment were expansion of the lysosomal compartment in peripheral blood mononuclear cells and elevated activity of secondary lysosomal enzymes. MRI changes characteristic of the gangliosidoses were documented in SD cats and normalized after AAV gene therapy. The minimally invasive biomarkers reported herein should be useful to assess disease progression of untreated GM2 patients and those in future clinical trials.

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“…Pessoa et al [1953] suggested that desquamated epithelial cells were a major source of endogenous lipid. Balint et al [1963] [1966] reported that the endogenous lipid was 'derived in part from bile -possibly to the extent of roughly 50 per cent'.…”

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confidence: 99%

The Source of Endogenous Lipid in the Thoracic Duct Lymph of Fasting Rats

1967

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The output of esterified fatty acid in the thoracic duct lymph of fasting, unanaesthetized rats decreased by 80 per cent when a bile fistula was produced. Steady infusion of sodium taurocholate, 5 or 10 mg./hr. in saline, did not reverse this fall. This suggested that it was the loss of biliary lipids and not primarily that of bile salts which was responsible for the decreased lymph lipid. The output of esterified fatty acid in bile of rats with chronic bile fistulae was small. However, experiments in which bile was returned by re-entrant cannula and sampled only for short periods showed that operation depressed biliary lipid output for about 24 hr. and drainage of bile clearly decreased biliary lipids within 2-4 hr. In each of a group of rats with re-entrant biliary cannulae the output of biliary lipids in the first 2 hr. of drainage was more than enough to account for the decrease in output of esterified fatty acid in fasting lymph in each rat after continuous biliary drainage was established. Gas liquid chromatography showed that before biliary drainage was established, fasting lymph lipids were rich in fatty acids characteristic of bile but after biliary drainage the fatty acid pattern closely resembled that of plasma. It is suggested that fatty acid liberated from phospholipids of bile in the intestinal lumen contribute a major portion of the esterified fatty acid of fasting lymph and that lipoproteins passing from plasma into lymph provide much of the remainder. The prompt effect of biliary drainage on phospholipid output in bile is briefly discussed.

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Studies of Red-Cell Stromal Lipids in Tay-Sachs Disease and Other Lipidoses*

Cited by 23 publications

References 21 publications

Studies of red cell stromal proteins in Tay-Sachs disease

Studies of red cell stromal proteins in Tay-Sachs disease

Biomarkers for disease progression and AAV therapeutic efficacy in feline Sandhoff disease

The Source of Endogenous Lipid in the Thoracic Duct Lymph of Fasting Rats

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