The inflammatory cytokines interferon alpha (IFN-α), interferon gamma (IFN-γ), and interleukin (IL) 7 could serve as biomarkers in hereditary transthyretin amyloidosis (hATTR) to monitor patient progression, according to a recently published study in Brain Sciences.
Although there has been great progress in recent decades, many hATTR molecular mechanisms still need to be explored. For example, there are few studies regarding the role of inflammatory pathways in hATTR.
Despite the growing evidence showing the role of inflammatory mechanisms in neurodegenerative disorders, little is known of their impact in hATTR.
“Few studies in the last two decades shed light on the role played by the inflammatory response in [hATTR] patients,” the authors wrote.
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The authors aimed to study the role of inflammation in hATTR by assessing serum levels of several molecules involved in the inflammatory cascade in 16 patients with hATTR.
The results were later compared to those of healthy controls. IL-1Ra, IL-2, IL-4, IL-6, IL-7, IL-33, IFN-α, and IFN-γ levels were measured in all participants.
A complete neurological and neurophysiological evaluation was performed in all patients, and standardized clinical tools such as the familial amyloid polyneuropathy (FAP) stage, polyneuropathy disability (PND) score, neuropathy impairment score (NIS), and quality of life-diabetic neuropathy (Norfolk QoL-DN) questionnaire were used as outcome measures.
Results revealed that IFN-α and IFN-γ levels were higher in patients with hATTR than in healthy controls. IL-7, on the other hand, was significantly lower in patients with hATTR than in healthy controls.
Clinical findings showed no significant correlation between cytokine levels and demographics or disease progression.
“In conclusion, the results of this pilot study suggest that [hATTR] is characterized by a modification of serum levels of IFN-alpha, IFN-gamma, and IL-7,” the authors wrote. “Larger and longitudinal studies using ultrasensitive methods to perform a full cytokine profiling are needed to better elucidate the role of inflammation in the pathogenesis of the disease.”
Luigetti M, Romano A, Guglielmino V, et al. Serum inflammatory profile in hereditary transthyretin amyloidosis: mechanisms and possible therapeutic implications. Brain Sci. 2022;12(12):1708. doi:10.3390/brainsci12121708