Altered phospholipid molecular species and glycolipid composition in brain, liver and fibroblasts of Zellweger syndrome
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- 作者：Celine Miyazaki ; Makiko Saitoh ; Masayuki Itoh ; Sumimasa Yamashita ; Makoto Miyagishi ; Sachio Takashima ; Ann B. Moser ; Masao Iwamori ; Masashi Mizuguchi
- 关键词：ZS ; Zellweger syndrome ; DBP ; d-bifunctional protein ; PE ; phosphatidylethanolamine ; VLCFA ; very long chain fatty acid ; PC ; phosphatidylcholine ; ACOX1 ; peroxisomal acyl coenzyme-A oxidase ; GNPAT ; glyceronephosphate O-acyltransferase ; CNS ; central nervous sy
- 刊名：Neuroscience Letters
- 出版年：2013
- 出版时间：27 September, 2013
- 年：2013
- 卷：552
- 期：Complete
- 页码：71-75
- 全文大小：1098 K
文摘
We studied the altered molecular species of lipids in brain and liver tissues, and fibroblasts from patients with Zellweger syndrome (ZS). ZS cerebellum samples contained a higher amount of sphingomyelin with shorter chain fatty acids compared to that in normal controls. The amount of phosphatidylethanolamine (PE) was less than half of that in controls, with the absence of the PE-type of plasmalogen. Gangliosides were accumulated in the brains and fibroblasts of ZS patients. To investigate whether or not impaired beta-oxidation of very long chain fatty acids and/or plasmalogen synthesis affects glycolipids metabolism, RNAi of peroxisomal acylCo-A oxidase (ACOX1) and glyceronephosphate O-acyltransferase (GNPAT) was performed using cultured neural cells. In neuronal F3-Ngn1 cells, ACOX1 and GNPAT silencing up-regulated ceramide galactosyltransferase (UGT8) mRNA expression, and down-regulated UDP-glucose ceramide glucosyltransferase (UGCG). These results suggest that both impaired beta-oxidation of very long chain fatty acids and plasmalogen synthesis affect glycolipid metabolism in neuronal cells.