Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese

Bi, Hong‐Yan; Gao, Yongfeng; Yao, Sheng; Dong, Mingrui; Headley, Alexander P; Yuan, Yun

doi:10.1111/j.1440-1789.2007.00808.x

Cited by 7 publications

(5 citation statements)

References 13 publications

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“…This significance appears to be evolutionarily well conserved, since SPT deficiency in Saccharomyces, Aspergillus, Arabidopsis and Drosophila leads to developmental abnormalities [164][165][166][167][168][169]. In humans, the only well-characterized congenital disease associated with mutant SPT is hereditary sensory and autonomic neuropathy type I, an autosomaldominant disorder of the peripheral nervous system caused by mutations of the gene coding for SPTLC-1 on chromosome 9q22.1-22.3 [170][171][172][173][174]. Another disease recently found to be associated with abnormal SPT activity is psoriasis, an inflammatory skin overgrowth, which may result from perturbed ceramide levels in the skin [175,176].…”

Section: Sphingolipid Biosynthesis In the Endoplasmic Reticulum: Enzymentioning

confidence: 99%

Ceramide signaling in cancer and stem cells

Bieberich

2008

Future Lipidology

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Most of the previous work on the sphingolipid ceramide has been devoted to its function as an apoptosis inducer. Recent studies, however, have shown that in stem cells, ceramide has additional nonapoptotic functions. In this article, ceramide signaling will be reviewed in light of 'systems interface biology': as an interconnection of sphingolipid metabolism, membrane biophysics and cell signaling. The focus will be on the metabolic interconversion of ceramide and sphingomyelin or sphingosine-1-phosphate. Lipid rafts and sphingolipid-induced protein scaffolds will be discussed as a membrane interface for lipid-controlled cell signaling. Ceramide/sphingomyelin and ceramide/ sphingosine-1-phosphate-interdependent cell-signaling pathways are significant for the regulation of cell polarity, apoptosis and/or proliferation, and as novel pharmacologic targets in cancer and stem cells. Keywordsapoptosis; cancer; cell polarity; ceramide; ES cells; lipid rafts; sphingomyelin; sphingosine-1-phosphate Ceramide & its derivatives: from metabolism to cell signalingThe structural core of ceramide is the sphingoid base sphingosine (Figure 1), a lipid that is synthesized from the amino acid serine and the activated fatty acid palmitoyl-CoA (Figure 2). Sphingosine (or sphingenine) was first isolated and characterized by the German pathologist and 'father of neurochemistry ' Johann Ludwig Wilhelm Thudichum (1829-1901 [1,2]. He coined the term sphingolipids, which is derived from 'sphingos', the genitive of Sphinx. In Greek, 'sphingo' means 'to strangle'. According to the legend, a fate of death was meant for everyone who could not solve the riddles posed by the Sphinx. Quite ironically, this is how many sphingolipid researchers may feel when faced with analyzing the function of ceramide. The riddle of ceramide, its function and how it acts as signaling lipid, is far from being solved. To ease our fears when confronted with the Sphinx in sphingolipid biochemistry, a related Greek word, 'sphingein', meaning 'to bind tight', alludes to the possibility of solving the enigma of ceramide by identifying its binding proteins.In addition to ceramide, more than a hundred different sphingolipids are known. The most comprehensive collection of sphingolipids, with respect to their characteristics and structures, can be found at [401], a Webpage supported by the National Institutes of General Medical Sciences [3,4]. Sphingolipids are essential components of cellular membranes and have been (Figure 3) . Among these, their roles as pro-or anti-apoptotic and pro-or anti-proliferative signaling lipids are the most important. Most recently, our group has found that establishment of cell polarity during embryonic development is another biological process regulated by sphingolipids [28]. To define a profile of functions for individual sphingolipids is difficult because of their rapid metabolic interconversion. To add to this predicament, several derivatives of ceramide have functions similar to ceramide itself. Hence, novel techniques are need...

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Section: Sphingolipid Biosynthesis In the Endoplasmic Reticulum: Enzymentioning

confidence: 99%

Ceramide signaling in cancer and stem cells

Bieberich

2008

Future Lipidology

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“…Mutations in SPTLC1 (MIM: 605712), which encodes the long-chain base subunit 1 of serine palmitoyltransferase (SPT), are the major underlying causes of HSAN I (1), and several mutations have been reported to be relevant in HSAN I: p.C133W, p.C133Y, p.C133R, p.V144D, p.S331F, pA310G, p.S331Y and p.A352V (2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). SPT catalyzes serine and palmitoyl coenzyme A (CoA), which is the initial and rate-limiting step in the de novo biosynthesis of sphingolipids.…”

Section: Introductionmentioning

confidence: 99%

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

Suh

Hong

Nakhro

et al. 2013

Molecular Medicine Reports

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Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disease characterized by prominent sensory impairment, resulting in foot ulcers or amputations and has a juvenile to adult onset. The major underlying causes of HSAN I are mutations in SPTLC1, which encodes the first subunit of serine palmitoyltransferase (SPT). To date, there have been no reports with regard to an HSAN patient of Korean origin. In this report we discussed an HSAN I patient with a missense mutation in SPTLC1 (c.992C>T: p.S331F). The patient had noticed frequent falls, lower leg weakness and hand tremors at age five. The patient also presented with foot ulcers, muscle hypotrophy, cataracts, hoarseness, vocal cord palsy and respiratory difficulties and succumbed to the condition at the age of 28 years. In accordance with previous reports, a mutation in Ser331 in the present patient was associated with early-onset and a severe phenotype. Therefore, Ser331 in SPTLC1 is a crucial amino acid, which characterizes the HSAN I phenotype.

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“…One is the classical type with pure sensory autonomic neuropathy without additional features. HSAN1 caused by SPTLC1 mutations, HSAN1C caused by SPTLC2 mutations, and HSAN5 caused by NGFB mutations should be classified into this type, as should the patient in our study. The other type concerns sensory autonomic neuropathy with additional features, such as HSAN1E with dementia and hearing loss caused by DNMT1 mutations, HSAN with cognitive impairment caused by prion mutations, and HSAN with lipid‐storage myopathy caused by ETFDH mutations .…”

Section: Discussionmentioning

confidence: 87%

“…Sural nerve biopsy from the patient confirmed the electrophysiological findings, revealing severe loss of myelinated and unmyelinated fibers with regeneration clusters. Decrement of both myelinated and unmyelinated fibers was also described in HSAN5 caused by NGFB mutation and HSAN1 caused by SPTLC1 mutation . It differed from HSAN1C caused by SPTLC2 mutations with relatively preserved unmyelinated fibers .…”

Section: Discussionmentioning

confidence: 90%

“…The SNAPs can be normal in younger patients with a 10‐year disease history, while they may not be induced in older patients with a 4‐year disease history. Electrophysiological involvement of peripheral motor nerves has been described in HSAN1E caused by DNMT1 mutations and HSAN1 caused by SPTLC1 mutations . In the follow‐up study, the electrophysiological changes in motor nerves became more obvious as the disease progressed in HSAN1C caused by SPTLC2 mutations …”

Section: Discussionmentioning

confidence: 98%

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Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum ofMFN2‐related diseases

Jun

Meng

et al. 2018

Neuropathology

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Mutations in the Mitofusin 2 (MFN2) gene have been identified in patients with autosomal dominant axonal motor and sensory neuropathy or Charcot-Marie-Tooth 2A (CMT2A). Here we describe clinical and pathological changes in an adult patient with sporadic hereditary sensory and autonomic neuropathy (HSAN) due to an MFN2 mutation. The patient was a 53-year-old man who had sensory involvement and anhidrosis in all limbs without motor features. The electrophysiological assessment documented severe axonal sensory neuropathy. The sural nerve biopsy confirmed the electrophysiological findings, revealing severe loss of myelinated and unmyelinated fibers with regeneration clusters. Genetic analysis revealed the previously identified mutation c.776 G > A in MFN2. Our report expands the phenotypic spectrum of MFN2-related diseases. Sequencing of MFN2 should be considered in all patients presenting with late-onset HSAN.

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Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese

Cited by 7 publications

References 13 publications

Ceramide signaling in cancer and stem cells

Ceramide signaling in cancer and stem cells

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

Late‐onset hereditary sensory and autonomic neuropathy expands the phenotypic spectrum ofMFN2‐related diseases

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