VLCFAVery Long-Chained Fatty Acid
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Plasma VLCFA levels were determined by measuring unsaturated lysophosphatidylcholine fatty acid esters, which are biomarkers for VLCFAs in X-ALD.
The first step of VLCFA synthesis is condensation, which is carried out by one of ELOVL1-7, each with different FA substrate preferences.
The findings of primary adrenocortical failure together with mild spastic paraparesis, ataxia, and an elevated plasma level of VLCFA established the diagnosis of AMN.
Diagnosis is made by MRI and by measuring plasma VLCFA levels.
14]C]-radio-labeled VLCFA substrates and one of two available methods: either in intact human skin fibroblasts cultured in monolayer (5); or in isolated fibroblasts permeabilized with digitonin (6).
and yeast, Miller and Kunst (1997) proposed that of the four enzymes involved in VLCFA biosynthesis, the two reductases and the dehydrase are expressed throughout the plant and are common to all microsomal FAE systems.
ALD is characterized by abnormal blood levels of complex saturated fatty acids known as VLCFAs (very-long-chain fatty acids).
Abnormal plasma samples were those leftover from patients with peroxisomal diseases referred to our laboratory and that gave abnormal VLCFA results.
ALD is usually diagnosed by plasma VLCFA analysis [1, 8], sometimes followed by measurement of (3-oxidation activity in cultured skin fibroblasts [9] and mutation analysis of the ALD gene [2,10-16].
NeuroVia's lead candidate NV1205, is a small molecule therapeutic that showed the ability to reduce levels of VLCFAs in brain, adrenal tissue and blood of mice lacking a functioning ABCD1 gene.
Buildup of VLCFAs in the central nervous system contributes to neurodegeneration in CALD.