Estimation of Biomarkers Chitotriosidase and CCL18/PARC in Gaucher Patients: Indian Experience

Abstract

Gaucher disease (GD) is caused by a deficient activity of the enzyme glucocerebrosidase. Recent review from India suggests GD to constitute 14.6 % of all LSD’s. Chitotriosidase has been used for assessing the disease burden and response to enzyme replacement therapy in most of developed countries and in few centers in our country. This biomarker is of limited utility in cases who have inherited mutated chitotriosidase gene, leading to normal to low level of biomarker and thus not correlating with disease burden. CCL18/PARC is a relatively new biomarker which had not been estimated in gaucher patients in India. This study tends to measure quantity of CCL18/PARC in Gaucher patients at various time intervals. The study was conducted at a tertiary care center in North India. Fourteen patients with deficient glucocerebrosidase activity were enrolled as cases. Clinical and biochemical parameters were recorded in predefined proforma. Enzyme glucocerebrosidasae was estimated as per protocol. The level of enzyme Chitotriosidase, CCL18/PARC was performed by using a commercially available ELISA kit. We evaluated chitotriosidase and CLL18/PARC levels in plasma of 10 type 1 GD patients, two with type 2 GD and two with type 3 GD. The median level of chitotriosidase were 259.3 (182–452.1) ng/ml at the time of recruitment {base line}, 332 (216.3–422.5) ng/ml, {1 year after base line}, 331.35 (222.2–434.6) ng/ml {2 years after base line}. The median levels of CCL18/PARC were 484.1 (334.2–592.5) ng/ml at the time of recruitment (baseline), 448.2 (399.2–702) ng/ml, {1 year after base line}, 431.75(362.1–689) ng/ml {2 years after base line}.We conclude that plasma CCL18 levels can serve as a dependable biomarker in patients with Gaucher disease and of significant utility in patients deficient in chitotriosidase enzyme.