Affiliation:
1. Department of Medical Genetics, Harran University, Sanlıurfa, Turkey
2. Department of Medicinal Biochemistry, Harran University, Şanlıurfa, Turkey
Abstract
Background:
Neurofibromatosis, also known as Von Recklinghausen disease, is a
systemic and progressive genetic disease that primarily affects the skin, eyes, nervous system, and
bones. The disease can occur in a variety of ways and can vary in individuals. Metabolomic-based
research using blood samples has enabled new diagnostic methods to be used in the diagnosis of
various diseases, especially cancer. Among the metabolites, profiling of plasma free amino acids
(PFAA) is a promising approach because PFAAs bind all organ systems and play an important role
in the metabolism.
Objective:
This study aimed to determine the characteristics of PFAA profiles in neurofibromatosis
patients and the possibility of using them for early detection and treatment of the disease.
Methods:
Patients with a diagnosis of Neurofibromatosis Type I confirmed by genetic
analysis and healthy individuals of the same age group without any disease were included in
the study. We analysed the nineteen plasma free amino acids (phenylalanine, proline,
threonine, arginine, asparagine, cystine, valine, glutamate, tyrosine, serine, glutamine,
glycine, tryptophane, leucine, lysine, methionine, isoleucine, aspartate and alanine) from
neurofibromatosis Type I patients and control group by liquid chromatography tandem mass
spectrometry (LC-MS/MS) in Metabolism Laboratory of Harran University Research and
Application Hospital. The results of the plasma free amino acid levels were divided into 3
groups as essential, semi-essential, and non-essential. The differences in amino acid levels
between groups were determined.
Results:
The levels of eight amino acids (methionine, arginine, cystine, glutamine, proline,
asparagine, serine, aspartate) were significantly altered in patients with neurofibromatosis type 1.
In essential amino acids, methionine levels were significantly higher in the patient group than
control group. While the levels of arginine and glutamine in semi-essential amino acids were
statistically significantly higher in the patient group, a significant decrease was observed in cystine
and proline levels compared to the control group's amino acid levels. In the non-essential amino
acids group, asparagine, serine and aspartate amino acid levels were significantly higher in the
patient group compared to the control group.
Conclusion:
The current research predicates that eight amino acids, namely methionine, arginine,
cystine, glutamine, proline, asparagine, serine, aspartate can be considered to be valuable
biomarkers for neurofibromatosis type I. This present study is the first to build models for
neurofibromatosis Type I screening using plasma free amino acids and the amino acid profile will
be able to guide the prediction of the complications that may occur during the course of the
disease.
Funder
Shanghai Institute for Food and Drug Control
Publisher
Bentham Science Publishers Ltd.
Subject
Organic Chemistry,Computer Science Applications,Drug Discovery,General Medicine