Young Researcher Award: Genetics are linked to Chronic Chagas heart disease severity

The work may assist developing new therapy strategies, if further results are confirmed


Research investigated whether MICA-129 genetic variations are related to the severy of LVSD in patients

Chronic Chagas cardiomyopathy affects at least a third of all patients with Chagas disease, and it is the most important cause of death associated to the disease. One of the reasons that can aggravate the condition among infected people may be a genetic factor called MICA-129. The theme was studied by PhD student Christiane Maria Ayos research that was 4th place in the 2015 Young Researcher Award.

The work investigated if MICA-129 genetic alterations were related to the severity of left ventricular systolic dysfunction (LVSD) observed among patients with chronic Chagas cardiomyopathy. This is an unprecedented study. There is no literature about investigations on the influence of MICA-129 polymorphism and CCC, said the researcher.

Identifying MICA as a susceptible candidate gene for CCC severity brings new important meanings for the diseases prognosis, believes Christiane. According to her, if further results are confirmed, the work may assist developing new therapy strategies. The goal is to use this polymorphism as an immunogenetic marker for the severety of the systolic dysfunction among patients with chronic complications, especially in endemic areas for Chagas disease – over 95% of the reported cases happen in Pará and Amapá states.

The research was conducted with 189 patients diagnosed CCC and attended at the Cardiomyopathy Ambulatory at the Base Hospital in São José do Rio Preto, Sao Paulo State. The patients blood volume pumped by the left ventricle (left ventricular ejection fraction or LVEF) was assessed after echocardiogram. In addition, blood samples were collected for genomic DNA extraction, and verification for MICA-129 polymorphism by a technique called nested PCR.

The work team was composed by two PhD students – including the author, a cardiologist and three professors from São José do Rio Preto Medical School. The patient selection took place from 2011 to 2013, while the molecular examinations and result analysis were performed from the second half of 2014.…