Human ARSB blocking peptide

Arylsulfatases are lysosomal enzymes with important roles in the cell metabolism. Several subtypes of arylsulfatase are known, from A to K. Congenital deficiencies of arylsulfatases, especially A (ARSA) and B (ARSB), can induce metabolic disorders such as metachromatic leucodystrophy (ARSA deficiency) and Maroteaux-Lamy syndrome (ARSB deficiency). ARSA and ARSB pseudodeficiencies were recently described but their exact roles are far to be known. The aim of this review was to synthesize the literature data, combined with personal results, regarding the roles of ARSA and ARSB in non-tumor disorders but also carcinogenesis. Few than 50 published papers regard ARSA and ARSB expression in cancer. They suggest decreased activity of these arylsulfatases in most of carcinomas, compared with normal tissues. However, the clinical impact is still unknown. Further complex studies are necessary to be done, to understand the role of ARSA and ARSB expression in cancer.

Background: Treatment of steroid-resistant nephrotic syndrome (SRNS) remains a challenge for paediatricians. SRNS accounts for 10 similar to 20% of childhood cases of nephrotic syndrome (NS). Individuals with SRNS overwhelmingly progress to chronic kidney disease (CKD) and end-stage kidney disease (ESRD). Genetic research is of great significance for diagnosis and treatment. More than 39 recessive or dominant genes have been found to cause human SRNS, including COQ2. COQ2 gene mutations not only cause primary coenzyme Q10 deficiency but also cause SRNS without extrarenal manifestations. The concept of COQ2 nephropathy has been proposed for a long time. Mutations in the COQ2 gene have rarely been reported. Worldwide, only 5 cases involving 4 families have been reported. Case presentation: We present the case of a 6-month-old girl with steroid-resistant glomerulopathy due to a COQ2 defect with no additional systemic symptoms. The patient was identified as a homozygote for the c.832 T > C (p. Cys278Arg) missense mutation and a single base homozygous mutation in ARSB gene in c.1213 + 1G > A. The father and mother were heterozygous mutation carriers in both COQ2 and ARSB, and her healthy sister was only a heterozygous mutation carrier in COQ2. In this case, hormone therapy was ineffective, and progressive deterioration of renal function occurred within 1 week after onset, leading to acute renal failure and eventual death. Conclusions: We reported a consanguinity married family which had COQ2 and ARSB dual mutant. Kidney diseases caused by COQ2 gene mutations can manifest as SRNS, with poor prognosis. The C. 832 T > c (p.csc 278arg) is a new mutation site. Genetic assessment for children with steroid-resistant nephrotic syndrome, especially in infancy, is very important. Families with a clear family history should receive genetic counselling and prenatal examinations, and children without a family phenotype should also receive genetic screening as early as possible.