Abstract
Very long chain fatty acids (VLCFAs) are accumulated in cells and blood in patients with peroxisomal diseases, such as adrenoleukodystrophy (ALD) and Zellwger Syndrome (ZS). The purpose of this study is to investigate usefulness of Fourier transform infrared spectroscopy (FTIR) with attenuated total reflection (ATR) analysis method for clinical diagnosis of those diseases, thereby we measured the infrared spectra of the sera of patients and healthy controls. Correlation coefficients between 2nd derivative FTIR spectra of the serum samples and the VLCFA content ratio which is used as a clinical parameter to date were comprehensively calculated to investigate which wavenumber showed high correlation with the VLCFA ratio. Multiple regression analysis using the serum FTIR spectra showed that high correlations were observed with VLCFA ratios (C26:0/C22:0 ratio), and we could construct a suitable regression model (R2 = 0.97, p ﹣19). In addition, the model system using various VLCFAs in newborn bovine serum also showed that several FTIR peaks in 800 ~ 900 cm﹣1 region were found to have good correlation with VLCFA ratios. Our results support that FTIR analysis is useful for diagnosis of peroxisomal diseases.
Highlights
Peroxisome is one of organelles found in most eukaryotic cells
Most of fatty acids including very long chain fatty acids (VLCFA) were present in bound form to various proteins in blood or serum [7] [8] and in this experiment the Fourier transform infrared spectroscopy (FTIR) spectra of sera were normalized at amide I (1650 cm−1) peak corresponding to serum proteins mainly
For analysis of VLCFAs by FTIR, it is important to measure in the lower wavenumber region because fatty acid methylene-originated rocking vibration mode could be observed in the wavenumber range between 720 and 1040 cm−1 with chain length dependency [9]
Summary
Peroxisome is one of organelles found in most eukaryotic cells. This organelle plays a role in decomposing hydrogen peroxide, but in β-oxidizing very long chain fatty acids (VLCFAs) longer than C20. When the peroxisomal functions are declined or lost, VLCFAs are usually accumulated in cells and blood resulting in damages to brain and nerves. This may be due to defects in a single enzyme important for peroxisomal function or in peroxins, proteins encoded by PEX genes that are critical for normal peroxisome assembly and biogenesis [1] [2]. The typical case of the former is X-linked adrenoleukodystrophy (ALD), and the latter Zellweger syndrome (ZS)
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call
