Serum Arylsulfatase and Acid Phosphatase Activity in Patients with Metabolic Syndrome as a Result of Oxidative Damage to Lysosomes.

BACKGROUND: Metabolic and clinical disorders forming the complex of interrelated abnormalities is known as metabolic syndrome (METs). OBJECTIVE: Our goal was to assess the dependence of serum arylsulfatase (AS) and acid phosphatase (ACP) activities on anthropometric and biochemical parameters in patients with METs. METHODS: In 142 patients with METs (IDF criteria), consisting of different components in different sequences (hypertension, diabetes, lipid disorders), and in 65 healthy participants, basic biochemical parameters were determined in laboratory tests. The activity of serum hydrolases was determined using Bessey's (ACP) and Roy's (AS) methods. RESULTS: The AS activity is correlated with waist-to-hip ratio (WHR) (more strongly in women and in most advanced METs), BMI (in men), and triglycerides (TG) (in women, participants with I degree obesity, and those with three METs components). The ACP activity correlated with the WHR of patients with II degree obesity, TG in those with III degree of obesity, and total cholesterol (TC) in those with four METs components. CONCLUSION: Increased AS activity in patients with METs compared to lower AS activity in the control group may be due to decreased lysosomal function and related to the amount of adipose tissue. Low activity of ACP in the blood serum of patients with METs compared to high activity of ACP in the control group may indicate exhaustion of the lysosomal apparatus and loss of hydrolytic activity. The increase in TG and TC in groups with an increasing number of METs-defining components may be due to the abnormal lysosomal degradation of these compounds.

Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome.

Phelan-McDermid syndrome or 22q13.3 deletion syndrome is a rare neurodevelopmental disorder characterized by neonatal hypotonia, severe speech delay, moderate to profound intellectual disability, and minor dysmorphic features. Regression of developmental milestones is often recognized as characteristic of this syndrome. We report a 6-year-old patient with Phelan-McDermid syndrome who presented with rapid neurologic deterioration secondary to metachromatic leukodystrophy due to a mutation of the arylsulfatase A gene (ARSA) on the other allele of 22q13.3. Metachromatic leukodystrophy was diagnosed later after clinical deterioration. Currently, there are no guidelines for screening Phelan-McDermid syndrome patients for metachromatic leukodystrophy. We propose screening for urine sulfatides at the time of Phelan-McDermid syndrome diagnosis to identify patients with pre-symptomatic or early symptomatic metachromatic leukodystrophy as it is important to facilitate discussion of treatment options and prognosis and provide medical surveillance for associated complications.

Activity of α1-antitrypsin and some lysosomal enzymes in the blood serum of patients with chronic obstructive pulmonary disease after smoking cessation.

The activity of α1-antitrypsin (AAT) and the lysosomal enzymes, cathepsin D (CTS D), arylsulfatase (ASA), and acid phosphatase, (AcP) was determined in patients with COPD (GOLD category A). Moreover, the diagnostic usefulness of these parameters in blood serum was assessed along with establishing whether smoking cessation affects these parameters. The study included 70 patients with COPD who ceased smoking (study group) and two control groups of 33 subjects each: nonsmokers without COPD (control I) and patients with COPD who continued smoking (control II). In control I, blood was taken once and in control II, at the start of the experiment and after the 1st, 2nd, and 3rd months. AAT in the patients exhibited higher activity than in the healthy subjects at all time points. AAT activity in the patients before the start of the experiment was ~80% higher (P < 0.001) than in control I. No statistically significant differences in CTS D, ASA, and AcP activity were found. COPD involves increased AAT activity and unchanged activities of the assessed lysosomal enzymes. Three-month tobacco abstinence does not affect these parameters in peripheral blood. Determining the AAT levels in blood serum can be used in the diagnostics of COPD.

Lysosomal enzymes in serum and synovial fluid in patients with osteoarthritis.

OBJECTIVE: To assess the activity of arylsulfatase (AS), acid phosphatase (ACP), cathepsin D (CAT-D) and alpha-1 antitrypsin (AAT) in blood serum and synovial fluid (SF) of patients with hip or knee osteoarthritis (OA). METHODS: The study included 43 subjects with OA (35 hip OA, 8 knee OA), submitted total joint replacement. The control group consisted of 58 subjects with no past history of musculoskeletal disorders. RESULTS: The OA blood serum samples showed a significantly higher level of lysosomal enzymes activity than in the control group (AS by 17.8%, AAT by 42.4%); only the CAT-D activity decreased by 50%). AS, ACP and CAT-D activities were about two-fold higher in SF when compared with blood of OA patients. The differences between the genders were visible in the SF: Total protein concentration, activity of ACP (both higher in OA men) and activity of CAT-D (higher in OA women). Between the involved hip and knee, there were no significant differences in all estimated parameters in the blood serum of the OA group. In regard to the SF, only ACP activity was significantly higher in patients with a hip involved. CONCLUSIONS: The osteoarthritic SF enzymatic profile differs from that in normal joints. The OA in joints is not reflected in the systemic response. Our preliminary results suggest further studies on role of lysosomal enzymes (ACP and AS) as biomarkers for the detection of osteoarthritis.

[Arylsulfatase activity in the blood of men with malignat melanoma. Preliminary reports]. / Aktywnosc arylosulfatazy we krwi mezczyzn z czerniakiem skóry.

UNLABELLED: High arylsulfatase activity occurs in the course of cutaneous melanoma. There is a correlation between the activity of the enzyme, and the susceptibility to metastatic cancer, including metastatic melanoma. Melanoma of the skin were 1.4% of all cancers in men and the number of deaths from this cancer in Poland in 2002 was the 424th. The aim of the study was decided to determine the usefulness of arylsulfatase activity in patients with melanoma of men for diagnostic purposes and for monitoring of the disease course. MATERIAL AND METHODS: The study included 25 patients diagnosed men with melanoma (mean age 55.5 years). Blood samples were collected before excision of melanoma of the skin and in the period from 2 to 3 months after surgery. To donate blood after resection of malignant melanoma reported only 13 men (mean age 57.4 years). Arylsulfatase activity was determined by Roy the modified Bleszczynski method. RESULTS: Arylsulfatase activity before surgery to remove the changes was higher in comparison to the control group and the patients after surgery. CONCLUSIONS: Of men patients with malignat melanoma arylsulfatase activity was high. Arylsulfatase mark may be useful in diagnosing and monitoring the course of the disease.

Effect of cadmium injected in ovo on hatching results and the activity of plasma hydrolytic enzymes in newly hatched chicks.

The aim of the study was to determine the toxicity of cadmium ions in chick embryos, using plasma hydrolytic enzyme as its biomarker. Hatching eggs (n = 300) from Ross 308 broilers were incubated under standard conditions. On day 4 of incubation, 50 µl of saline solution, containing Cd ions at a concentration from 0 (control group) to 24 µg, was injected in ovo into the egg albumen. The results indicate that the administration of cadmium at doses exceeding 1 µg/egg caused a gradual decrease in hatchability, with an LD50 of 3.9 µg/egg. The greatest differences between the groups in the enzymatic activities studied were found for N-acetyl-ß-D-glucosaminidase (NAG), ß-D-mannosidase (ß-MAN) and arylsulphatase (ARYL). Compared to the control group, in the blood serum of chicks from the groups receiving 3, 6 and 12 µg Cd/egg the NAG activity increased by 79, 108 and 54% and ß-MAN activity by 33, 119 and 108%, respectively. Exposure to cadmium at a dose of 1 to 6 µg per egg caused an about 60% increase in ARYL activity while a dose of 12 µg decreased the activity by about 35% below the level observed in the control group. These findings show that cadmium has a similar toxicity mechanism in mammals and birds, which opens the possibility of using NAG activity as a biomarker of the cytotoxic effect of cadmium in birds.

Juvenile metachromatic leukodystrophy: understanding the disease and implications for nursing care.

Hematopoietic stem cell transplants are increasingly being performed in attempt to halt the progression of juvenile metachromatic leukodystrophy, which is a rare neurodegenerative disease. Children who are diagnosed with metachromatic leukodystrophy are not commonly cared for by nurses who specialize in pediatric stem cell transplants. This article provides nurses with insight about this disease and serves as a guide for nursing care of this patient population during hematopoietic stem cell transplant. The case study highlights the complexities of care of this population while illustrating many of the unique care needs of patients with metachromatic leukodystrophy undergoing hematopoietic stem cell transplant. The article provides information about the pathophysiology of metachromatic leukodystrophy, the natural progression of symptoms, and how hematopoietic stem cell transplant may work to halt the progression of juvenile metachromatic leukodystrophy. It also focuses on the implications of nursing care, including a review of systems, the need for increased patient and family education, and the complexities of caring for a family with multiple affected children.

[Changes in arylsulphatase activity in blood serum in patients with breast cancer before and after treatment]. / Zmiany aktywnosci arylosulfatazy w surowicy u chorych z rakiem sutka przed i po leczeniu.

We evaluated arylsulphatase activity in 52 women with breast cancer. In women with breast cancer this enzyme activity is 2,5-fold higher than in healthy women. After operation and chemiotherapy arylsulphatase activity decreased to normal values. There is correlation between enzyme activity and tumor size and number of metastases. In group with bigger tumor and higher number of metastases arylsulphatase activity is markedly higher.

[Differentiation between arylsulfatase A deficiency and pseudo-deficiency]. / Dyferentsiatsiia spravzhn'oho defitsytu ta psevdodefitsytu arylsul'fatazy A.

Metachromatic leukodystrophy (MLD)--lysosomal storage disease caused arylsulfatase A (ARSA) deficiency. Biochemical diagnostic of MLD is complicated by arylsulfatase A pseudodeficiency. There is possibility of mistake in MLD diagnoses in case of pseudodeficiency ARSA and non-MLD neurological disease combination. We suggest the new modification of arylsulfatase A activity detection method which allows to identify the arylsulfatase A pseudodeficiency without molecular genetic methods.

Ozone therapy and the activity of selected lysosomal enzymes in blood serum of patients with lower limb ischaemia associated with obliterative atheromatosis.

BACKGROUND: The paper compares the effects of ozone therapy and conventional balneological methods on health condition of patients with obliterative atheromatosis and on serum activity of three lysosomal enzymes. MATERIAL/METHODS: Sixty-four patients with lower limb ischaemia in the course of obliterative atheromatosis (without diabetes) were enrolled in the study. Thirty-two patients were treated with ozone administered by intravenous infusions and 30-minute aerosol oxygen-ozone baths. A comparative group was formed of 32 patients treated with traditional balneology. There was also a control group made up of 30 healthy subjects. Ozone therapy as well as traditional balneology were administered daily for the period of 10 days, excluding Saturdays and Sundays. Blood for biochemical analysis was collected from elbow vein in the following time intervals: 24 hours before ozone therapy or classical balneology, one hour after therapy and on the 10th day of treatment. The activity of cathepsin D, acid phosphatase and arylsulphatase as well as the levels of a-1-antitrypsin (protease inhibitor) were determined in blood serum of patients with obliterative atheromatosis. RESULTS: In patients who received ozone therapy the activity of analysed lysosomal hydrolases returned to the values typical for healthy subjects. Patients' general condition also improved. The use of traditional balneological methods did not result in any significant change either in the activity of lysosomal hydrolases, the level of a-1-antitrypsin or general condition of patients. CONCLUSIONS: Ozone therapy administered by intravenous infusions and aerosol oxygen-ozone baths of lower extremities yields much better therapeutic results in comparison with classical balneology.

Activity of some lysosomal enzymes in serum and in tumors of patients with squamous cell lung carcinoma.

The aim of the study was an assessment of some lysosomal enzymes activity in serum and in tumors of patients with lung cancer histopathologically confirmed as squamous cell lung carcinoma. The first group constisted of 10 patients with stage II of the disease and the second group consisted of 11 patients with stage III of the disease. Lysosomal enzymes activities were assayed in serum before surgery and on the 10th day after surgery in serum and in tumors. Arylsuphatase, cathepsin D and acid phosphatase activities were higher in the patients serum than in that of the control group. The decrease of arylsulphatase and cathepsin D activities after surgery was statistically significant in both groups of patients, but the cathepsin D activity was still 3 times higher in patients than in those from the control group. The decrease of acid phosphatase activity after surgery was about 50% in both groups of patients and this decrease was statistically significant. The arylsulphatase and acid phosphatase activity in tumors was nearly 3 times higher in stage III patients than it was in stage II patients, but the cathepsin D activity was nearly the same in both patient groups. Higher lysosomal enzyme activity may be a useful factor in diagnosing and monitoring of lung cancer. However, further investigations are needed.

Corneal manifestations of X-linked ichthyosis in two brothers.

PURPOSE: To report the unusual manifestation of X-linked ichthyosis in two brothers. METHODS: Leukocyte separation and sterylsulfatase assay are performed to show the deficiency of sterylsulfatase. RESULTS: Two brothers presented in our clinic with cutaneous alterations consistent with X-linked ichthyosis. Ocular examination disclosed fine, flour-like, punctate, evenly, and diffusely distributed opacities of the posterior corneal stroma, close to Descemet membrane in both patients. In one patient, superficial, small, granular opacities were detected. They were gray in color and seemed to involve the epithelium and the subepithelial and anterior stromal layers. In both patients, the deficiency of sterylsulfatase could be shown and confirmed the diagnosis. CONCLUSIONS: Flour-like opacities in the posterior stroma have been shown to be a common manifestation of X-linked ichthyosis. Though the underlying biochemical defect in X-linked ichthyosis has been discovered, the question of how these opacities develop is still a subject of debate. Subepithelial stromal keratopathies or epithelial irregularities are uncommon and are rarely described in the literature. The superficial corneal changes seen in one of our patients are unusual and are not similar to those reported by other authors.

[Effects of bioflavonoids on the toxicity of T-toxin in rats. A biochemical study]. / Vliianie bioflavonoidov na toksichnost' T-2-toksina dlia krys. Biokhimicheskie issledovaniia.

The enrichment of a diet of rats by flavonoids of milk thistle, Silybum marianum, reduced toxicity of T-2 toxin and was accompanied by reduction of a degree of change of total and nonsedimentable activity of lysosomal enzymes and microsomal xenobiotic metabolizing enzymes.

[Changes in arylsulphatase activity (EC 3.1.6.1) in the blood serum and urine in women during pregnancy and in the course of delivery]. / Zmiany aktywnosci arylosulfatazy A (EC 3.1.6.1) w surowicy i moczu kobiet w przebiegu ciazy i porodu fizjologicznego.

By the determination of arylsulphatase A activity (EC 3.1.6.1) in the blood serum and urine obtained from 66 women using the modified method by Lee-Vaupel and Conzelmann it was noticed the increase in the enzyme activity during the pregnancy comparing to the non-pregnant group. The highest enzyme activity was observed in the III trimester of pregnancy. In the following stages of delivery (I, II, III) it was assumed the increase in enzyme activity in urine. The highest enzyme activity in urine was observed in the stage III, and in the serum--in the stage II. It was compared the enzyme activity in primiparae and multiparae proving, that in the serum nd urine this activity is higher in the stages I and II in multiparae, and in the stage III in primiparae.

Genetic correlation between steroid sulfatase concentration and initiation of attack behavior in mice.

The pairing region of the X-Y chromosomes recombines at male meiosis. We previously found that offense behavior in male mice, measured by initiation of attack against a conspecific male, was linked to this region. Only one functional gene (coding for steroid sulfatase or Sts) is mapped on this region as of yet, suggesting that it could be a candidate for offense behavior. We estimated the genetic correlation between the concentration of STS protein in the liver and the initiation of attack behavior in 11 strains of inbred mice. The high correlation (close to reliability) coefficient of the behavioral phenotype indicates the implication of STS in offense behavior. Recent investigations have demonstrated the involvement of STS in neurosteroid biochemical pathways, and several lines of evidence indicate that neurosteroids interact with neurotransmitters. These conclusions and our present results support the hypothesis that sulfatation of steroids may be the prime mover of a complex network, including genes shown to be implicated in aggression by mutagenesis.

Most "sporadic" cases of X-linked ichthyosis are not de novo mutations.

X-linked ichthyosis is an inherited disease with dark, regular and adherent scales as clinical characteristics. It is caused by a deficiency of the steroid sulphatase enzyme. Steroid sulphatase assay is a relative easy tool that enables correct diagnosis of X-linked ichthyosis patients and carriers. A large number of X-linked ichthyosis patients correspond to non-familial cases that seem to represent de novo mutations. In this study, we examined the X-linked ichthyosis carrier state of the mothers of 42 non-familial cases to determine whether their children corresponded to de novo mutations. To classify patients and carriers, a steroid sulphatase assay was performed in leukocytes using 7-[3H]-dehydroepiandrosterone sulphate as substrate. In 36 mothers (85%) we found steroid sulphatase activity compatible with the carrier state of X-linked ichthyosis. This data suggest that most of the mothers of these patients present the primary gene defect, excluding de novo mutations in the patients.

Steroid sulfatase activity in leukocytes: a comparative study in 45,X; 46,Xi(Xq) and carriers of steroid sulfatase deficiency.

The enzyme steroid sulfatase (STS) hydrolyses 3-beta-hydroxysteroid sulfates. The female-male STS activity ratio is 1.04-1.7:1 in several cell lines in adults and reaches 2:1 in prepubertal subjects. In fibroblasts, STS values in X-chromosome abnormalities show a partial positive correlation according to the number of X-chromosomes. X-linked ichthyosis (XLI) carriers, with only one copy of the STS gene, present lower STS levels than normal controls. This study analyzes the STS activity in leukocytes of 46,Xi(Xq); 45,X; XLI carriers and normal controls using 7-[3H]-dehydroepiandrosterone sulfate as substrate. X-monosomy (1.07 +/- 0.18 pmol/mg protein/h), Xq isochromosome (1.02 +/- 0.12 pmol/mg protein/h) and normal females (1.03 +/- 0.11 pmol/mg protein/h) had similar STS values (p > 0.05). XLI-carriers and males showed the lowest STS levels (0.34 +/- 0.04 pmol/mg protein/h, p < 0.001 and 0.82 +/- 0.14 pmol/mg protein/h, p < 0.05, respectively). Female-male STS activity ratio in leukocytes was 1.3:1. These data indicate that a complex mechanism regulates the STS expression depending on each type of cell line.

A new type of Streptomycete arylsulfatase with high affinity to the sulfuryl moiety of the substrate.

Streptomyces sp. T109-3 arylsulfatase (Es-2), which desulfated p-nitrophenyl sulfate as well as etoposide 4'-sulfate, was purified to protein homogeneity by sulfated cellulose affinity and DEAE-cellulose column chromatographies. Es-2 required calcium for enzyme activity and was severely inhibited by SH and chelating reagents. Comparative characterization showed that, although distinct in recognition of the binding moiety of substrate, Es-1 (Streptomyces griseorubiginosus S980-14 arylsulfatase) and Es-2 shared high desulfating activity on etoposide 4'-sulfate and many other common enzymological characteristics, which suggested they would be acceptable as the enzyme component of antitumor antibody-enzyme conjugates for target chemotherapy.