Reduced cellular cholesterol efflux and low plasma high-density lipoprotein cholesterol in a patient with type B Niemann-Pick disease because of a novel SMPD-1 mutation

Tamasawa, Naoki; Takayasu, Shinobu; Murakami, Hiroshi; Yamashita, Maki; Matsuki, Kota; Tanabe, Jutaro; Matsui, Jun; Satoh, Kei; Suda, Toshio

doi:10.1016/j.jacl.2011.08.009

Cited by 6 publications

(6 citation statements)

References 34 publications

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“…Ceramide is a molecule with pro-apoptotic and anti-proliferative properties, and recent reviews examine the role of ceramide as an anti-cancer molecule [24], [25] and the association of elevated glucosylceramide with Gaucher-associated malignancies [26]. Similar links between low ceramide and colon cancer have also been suggested in the setting of Niemann-Pick type B disease [22]. Chemotherapeutic agents which increase ceramide levels promote cell death of cancer cells [27], and conversely, altered sphingolipid metabolism in cancer cells lead to carcinogenesis, cancer progress and chemotherapeutic resistance [27].…”

Section: Discussionmentioning

confidence: 92%

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Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Thurberg

Germain

Perretta³

et al. 2017

Molecular Genetics and Metabolism Reports

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by loss of function mutations in the GLA gene at Xq22 with subsequent functional deficiency of alpha-galactosidase A, resulting in the accumulation of globotriaosylceramide (GL-3 or Gb3) in multiple cells types throughout the body. As with other rare metabolic disorders, little is known about the incidence of malignancies in these populations and the relationship to the underlying disease, if any. We report the occurrence of meningioma in four female patients with Fabry disease. Two of the cases are from the same family and shared the same GLA mutation. All four patients underwent surgical excision of their tumor. High resolution light microscopy and electron microscopy examination of one case revealed extensive involvement of tumor cells and associated blood vessels by GL-3 accumulation. Because of the small number of Fabry-associated cancer cases reported in the literature, questions about a possible link between lysosomal storage disorders and the development of malignancy remain open.

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Section: Discussionmentioning

confidence: 92%

“…A review of the literature on Gaucher disease and associated malignancies has reported several cases of hepatocellular carcinoma, colon cancer, breast cancer and other tumor pathologies [21]. Colon cancer and hepatocellular carcinoma have also been reported in Niemann-Pick type B patients [22], [23].…”

Section: Discussionmentioning

confidence: 99%

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Thurberg

Germain

Perretta³

et al. 2017

Molecular Genetics and Metabolism Reports

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“…A defect in SMPD1 causes Niemann-Pick disease, 54 one phenotype of which is lipid abnormality including low HDL levels as a result of increased sphingomyelin content. 55,56 Recently, compound heterozygosity (rs120074118 [p.Arg610del] and rs120074127 [p.Ar-g443Ter]) 57 and a novel SNP (c.1480G>T [p.G494C]) 58 at SMPD1 have been shown to be strongly associated with low HDL levels in patients with Niemann-Pick disease. As PON1 SNP rs854560 also affects HDL levels, 59 rs854560 could be associated with SNPs of the SMPD family, in relation not only to HDL levels but also to the pathogenesis of periodontitis.…”

Section: Discussionmentioning

confidence: 99%

Effects of paraoxonase 1 on the cytodifferentiation and mineralization of periodontal ligament cells

Masumoto

Kitagaki

Matsumoto

et al. 2017

J of Periodontal Research

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“…These patients have been reported to have a severe reduction in plasma HDL cholesterol [159–161] and SM-enriched HDL [162]. This abnormal HDL composition may cause a decrease in LCAT activity and a lack of HDL maturation [163,164], and was a consequence of a reduced cholesterol efflux [165]. In Tangier disease, the relative quantity of long-chain fatty acids (23 or more carbons) in serum SM was about 38% lower than that of control sera [166].…”

Section: Factors Influencing Hdl-smmentioning

confidence: 99%

Sphingomyelin in High-Density Lipoproteins: Structural Role and Biological Function

Martínez‐Beamonte

Lou-Bonafonte

Martínez-Gracia

et al. 2013

IJMS

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High-density lipoprotein (HDL) levels are an inverse risk factor for cardiovascular diseases, and sphingomyelin (SM) is the second most abundant phospholipid component and the major sphingolipid in HDL. Considering the marked presence of SM, the present review has focused on the current knowledge about this phospholipid by addressing its variable distribution among HDL lipoparticles, how they acquire this phospholipid, and the important role that SM plays in regulating their fluidity and cholesterol efflux from different cells. In addition, plasma enzymes involved in HDL metabolism such as lecithin–cholesterol acyltransferase or phospholipid transfer protein are inhibited by HDL SM content. Likewise, HDL SM levels are influenced by dietary maneuvers (source of protein or fat), drugs (statins or diuretics) and modified in diseases such as diabetes, renal failure or Niemann–Pick disease. Furthermore, increased levels of HDL SM have been shown to be an inverse risk factor for coronary heart disease. The complexity of SM species, described using new lipidomic methodologies, and their distribution in different HDL particles under many experimental conditions are promising avenues for further research in the future.

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Reduced cellular cholesterol efflux and low plasma high-density lipoprotein cholesterol in a patient with type B Niemann-Pick disease because of a novel SMPD-1 mutation

Cited by 6 publications

References 34 publications

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies

Effects of paraoxonase 1 on the cytodifferentiation and mineralization of periodontal ligament cells

Sphingomyelin in High-Density Lipoproteins: Structural Role and Biological Function

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