Researchers at the Institute for Research and Innovation in Health (I3S) in Porto have uncovered two genes that may help explain why there is a “variation in age” at the onset of paramyloidosis, known as foot disease.
“The main point common to both studies is that a variation on the age at which paramyloidosis has started is long documented, and this variation can not be explained only by what is already described in genetic terms. There must be other genetic factors involved, so we went to study the two genes, “said Carolina Lemos, a researcher at i3S.
Carolina Lemos explained that the investigations, developed about two years ago and based on the genes ATXN2 and C1Q, “seem to contribute to explaining” the variation of ages observed in the appearance of the disease, being that the Paramiloidosis can manifest itself from the 19 until the 82 years.
The article, entitled ‘Large Normal Alleles of ATXN2 Decreasing Aging on Transthyretin Familial Amyloid Polyneuropathy Val30Met Patients’ and recently published in the Annals of Neurology, lists the ATXN2 gene with Paramyloidosis and believes that it’ conditions the anticipated risk of onset of disease.
“A different mechanism of the ATXN2 gene will lead to an average decrease in the age of onset of the disease. Basically, in this gene the nucleotides [DNA compounds] have a larger number of replicates and are associated with a decrease in age “said Carolina Lemos, a member of i3S’s UnIGENe research group.
In order to carry out the articles, the research team used the databases of patients from the Corino de Andrade Unit of the Santo António Hospital in Porto, which, according to Carolina Lemos, is “the largest patient base with Paramyloidosis worldwide.”
In turn, the ‘C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients’ study, published in the March issue of the Annals of Clinical and Translational Neurology, was based on’ C1Q gene variants that retarded age of onset of Paramyloidosis “.
“In this study, nucleotide changes appear to interfere and cause the age at onset of disease to decrease, and in other situations on the same gene, to increase, it all depends on the exchange of these compounds,” he said.
According to Carolina Lemos, both investigations emphasize that the variation of age is conditioned by “multiple genetic factors” and that, therefore, it is necessary to “perceive the scenario of all the factors that contribute to the variation” so that a better prediction is made of the onset of symptoms.
“It is necessary to know the whole scenario to understand what each patient has and also what can be inherited by future generations so that we can better predict the age of onset that the younger generations, who still do not have symptoms, “he pointed out.
The researcher said that the team plans to “combine the results obtained” in all the studies developed in this area to “calculate the risk of everything” that was found and to perceive the “impact of the whole scenario of variation” of the disease.
