A recent study published in the International Journal of Molecular Sciences found reduced serum levels of palmitic acid in people with hereditary transthyretin amyloidosis (hATTR). The study authors speculate that the altered fatty acid might serve as a viable early biomarker of the condition.
For the purpose of this observational case-control study, the researchers collected blood samples from 16 patients with a confirmed pathogenic TTR variant and a diagnosis of hATTR and 25 healthy volunteers without any evidence of neurologic, cardiac, renal, or autoimmune disease at the Fondazione Policlinico Universitario Agostino Gemelli IRCCS in Rome, Italy, between 2021 and 2022.
To describe the metabolic profile of people with hATTR, the study authors measured serum concentrations of 26 amino acids and derivatives by ultraperformance liquid chromatography as well as the serum levels of 10 fatty acids by gas chromatography–electron ionization–mass spectrometry.
The participants also received a complete neurological and neurophysiological evaluation by an expert neurologist, as well as the assessment of several outcome measures.
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According to the results, serum levels of palmitic acid were significantly lower in patients with hATTR than in the healthy volunteers, while the serum levels of amino acids remained stable in both groups. There were also no significant differences in the levels of amino and fatty acids between patients with different genotypes and clinical phenotypes of hATTR.
“Biomarkers are an emerging need in neurological disorders, especially for early diagnosis of treatable conditions such as [hATTR]. Considered as blood biomarkers, metabolites could be involved in detection of [hATTR] disease onset and progression,” Luigetti and colleagues wrote.
The metabolic alterations identified in hATTR correlate to some of its clinical manifestations and could be the expression of disease pathophysiological processes such as mitochondrial dysfunction and neuroinflammation.
Luigetti M, Guglielmino V, Romano A, et al. A metabolic signature of hereditary transthyretin amyloidosis: a pilot study. Int J Mol Sci. 2022;23(24):16133. doi:10.3390/ijms232416133