A Metabolic Signature of Hereditary Transthyretin Amyloidosis: A Pilot Study.
Marco LuigettiValeria GuglielminoAngela RomanoMaria Ausilia SciarroneFrancesca VitaliAndrea SabinoJacopo GervasoniAniello PrimianoLavinia SantucciRossana MoroniGuido PrimianoPublished in: International journal of molecular sciences (2022)
Hereditary transthyretin amyloidosis is the most common form of hereditary amyloidosis, with an autosomal dominant inheritance and a variable penetrance. ATTRv amyloidosis can present as a progressive, axonal sensory autonomic and motor neuropathy or as an infiltrative cardiomyopathy. The definition of biomarkers for the early diagnosis of ATTRv is particularly important in the current era of emerging treatments. In this sense, metabolomics could be an instrument able to provide metabolic profiles with their related metabolic pathways, and we would propose them as possible fluid biomarkers. The aim of this study is to identify altered metabolites (free fatty acids and amino acids) in subjects with a confirmed pathogenic TTR variant. Out of the studied total free fatty acids and amino acids, the serum values of palmitic acid are significantly lower in the ATTRv patients compared to the recruited healthy subjects. The metabolic remodeling identified in this neurogenetic disorder could be the manifestation of pathophysiological processes of the disease, such as mitochondrial dysfunction and neuroinflammation, and contribute to explaining some of its clinical manifestations.
Keyphrases
- fatty acid
- amino acid
- multiple myeloma
- end stage renal disease
- ejection fraction
- newly diagnosed
- heart failure
- multiple sclerosis
- traumatic brain injury
- chronic kidney disease
- spinal cord injury
- patient reported outcomes
- mass spectrometry
- heart rate
- lipopolysaccharide induced
- mitochondrial dna
- cognitive impairment
- dna methylation