Aktivnost arginaze u ovarijskim strukturama krava švicarske smeđe pasmine i njezinih križanaca.

Arginase is the last enzyme of the urea cycle. It catalyses the hydrolysis of L-arginine to L-ornitine and urea. The aim of this study was to investigate the presence of arginase activity in ovarian structures such as: Graaf follicles, GF (Medium and Large size, M- and L-size), Corpus Haemorrhagicum (CH), and various types of Corpus Luteum (CL) such as: cyclic CL (CCL), 2-4 month pregnancy CL (2-4 MCL) and 4-7 month pregnancy CL (4-7 MCL). Ovarian tissues of 62 cows (7-10 years old and Brown Swiss or its cross-breeds), collected from a local slaughterhouse, were used as material. The materials were divided into 6 experimental groups, as follows: MGF group (n = 7), LGF group (n = 21), CH group (n = 7), CCL group (n = 6), 2-4 MCL group (n = 9) and 4-7 MCL group (n = 12). Arginase activities were measured as 0.056 ± 0.017, 0.100 ± 0.016, 2.517 ± 0.521, 0.827 ± 0.190, 0.674 ± 0.106 and 0.833 ± 0.093 U/mg protein in all groups, respectively. Arginase activity in the CH group was significantly higher than that in the CCL, 2-4 MCL and 4-7 MCL groups (P<0.001). The lowest enzyme activity was in the MGF and LGF groups. Hence, it was concluded that the arginase enzyme might play a crucial role in cell division, proliferation and differentiation in the ovarian tissues (especially the CH) of mature cows.Arginaza je posljednji enzim u ciklusu ureje koji katalizira hidrolizu L-arginina u L-ornitin i ureju. Cilj istraživanja bio je utvrditi prisutnost aktivnosti arginaze u ovarijskim strukturama kao što su Graafovi folikuli, GF (srednje veliki - M i veliki - L), corpus haemorrhagicum (CH) i različiti tipovi corpus luteum (CL) kao što su ciklični (CCL), 2-4 mjeseca graviditetni (2-4 MCL) i 4-7 mjeseci graviditetni (4-7 MCL). Tkiva ovarija od 62 krave (švicarske smeđe pasmine i križanaca u dobi od 7 do 10 godina) prikupljena su u lokalnoj klaonici. Materijali su bili podijeljeni u 6 pokusnih skupina kako slijedi: MGF skupina (n = 7), LGF skupina (n = 21), CH skupina (n = 7), CCL skupina (n = 6), 2-4 MCL skupina (n = 9) i 4-7 MCL skupina (n = 12). Slijedom navedenih skupina, aktivnost arginaze bila je 0,056 ± 0,017, 0,100 ± 0,016, 2,517 ± 0,521, 0,827 ± 0,190, 0,674 ± 0,106 i 0,833 ± 0,093 U/mg. Aktivnost arginaze u CH skupini bila je signifikantno viša u odnosu na skupine CCL, 2-4 MCL i 4-7 MCL (P<0,001). Najniža aktivnost enzima bila je u skupinama MGF i LGF. Zaključeno je o mogućoj ključnoj ulozi aktivnosti enzima arginaze u diobi stanica, proliferaciji i diferencijaciji ovarijskih tkiva (osobito CH) kod odraslih krava

MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.

Charcot-Marie-Tooth disease (CMT) type 2A is a form of peripheral neuropathy, due almost exclusively to dominant mutations in the nuclear gene encoding the mitochondrial protein mitofusin-2 (MFN2). However, there is no understanding of the relationship of clinical phenotype to genotype. MFN2 has two functions: it promotes inter-mitochondrial fusion and mediates endoplasmic reticulum (ER)-mitochondrial tethering at mitochondria-associated ER membranes (MAM). MAM regulates a number of key cellular functions, including lipid and calcium homeostasis, and mitochondrial behavior. To date, no studies have been performed to address whether mutations in MFN2 in CMT2A patient cells affect MAM function, which might provide insight into pathogenesis. Using fibroblasts from three CMT2AMFN2 patients with different mutations in MFN2, we found that some, but not all, examined aspects of ER-mitochondrial connectivity and of MAM function were indeed altered, and correlated with disease severity. Notably, however, respiratory chain function in those cells was unimpaired. Our results suggest that CMT2AMFN2 is a MAM-related disorder but is not a respiratory chain-deficiency disease. The alterations in MAM function described here could also provide insight into the pathogenesis of other forms of CMT

Contrasting disease patterns in seropositive and seronegative neuromyelitis optica: A multicentre study of 175 patients

BACKGROUND: The diagnostic and pathophysiological relevance of antibodies to aquaporin-4 (AQP4-Ab) in patients with neuromyelitis optica spectrum disorders (NMOSD) has been intensively studied. However, little is known so far about the clinical impact of AQP4-Ab seropositivity. OBJECTIVE: To analyse systematically the clinical and paraclinical features associated with NMO spectrum disorders in Caucasians in a stratified fashion according to the patients' AQP4-Ab serostatus. METHODS: Retrospective study of 175 Caucasian patients (AQP4-Ab positive in 78.3%). RESULTS: Seropositive patients were found to be predominantly female (p 1 myelitis attacks in the first year were identified as possible predictors of a worse outcome. CONCLUSION: This study provides an overview of the clinical and paraclinical features of NMOSD in Caucasians and demonstrates a number of distinct disease characteristics in seropositive and seronegative patients

Aktivnost arginaze u ovarijskim strukturama krava švicarske smeđe pasmine i njezinih križanaca.

Arginase is the last enzyme of the urea cycle. It catalyses the hydrolysis of L-arginine to L-ornitine and urea. The aim of this study was to investigate the presence of arginase activity in ovarian structures such as: Graaf follicles, GF (Medium and Large size, M- and L-size), Corpus Haemorrhagicum (CH), and various types of Corpus Luteum (CL) such as: cyclic CL (CCL), 2-4 month pregnancy CL (2-4 MCL) and 4-7 month pregnancy CL (4-7 MCL). Ovarian tissues of 62 cows (7-10 years old and Brown Swiss or its cross-breeds), collected from a local slaughterhouse, were used as material. The materials were divided into 6 experimental groups, as follows: MGF group (n = 7), LGF group (n = 21), CH group (n = 7), CCL group (n = 6), 2-4 MCL group (n = 9) and 4-7 MCL group (n = 12). Arginase activities were measured as 0.056 ± 0.017, 0.100 ± 0.016, 2.517 ± 0.521, 0.827 ± 0.190, 0.674 ± 0.106 and 0.833 ± 0.093 U/mg protein in all groups, respectively. Arginase activity in the CH group was significantly higher than that in the CCL, 2-4 MCL and 4-7 MCL groups (P<0.001). The lowest enzyme activity was in the MGF and LGF groups. Hence, it was concluded that the arginase enzyme might play a crucial role in cell division, proliferation and differentiation in the ovarian tissues (especially the CH) of mature cows.Arginaza je posljednji enzim u ciklusu ureje koji katalizira hidrolizu L-arginina u L-ornitin i ureju. Cilj istraživanja bio je utvrditi prisutnost aktivnosti arginaze u ovarijskim strukturama kao što su Graafovi folikuli, GF (srednje veliki - M i veliki - L), corpus haemorrhagicum (CH) i različiti tipovi corpus luteum (CL) kao što su ciklični (CCL), 2-4 mjeseca graviditetni (2-4 MCL) i 4-7 mjeseci graviditetni (4-7 MCL). Tkiva ovarija od 62 krave (švicarske smeđe pasmine i križanaca u dobi od 7 do 10 godina) prikupljena su u lokalnoj klaonici. Materijali su bili podijeljeni u 6 pokusnih skupina kako slijedi: MGF skupina (n = 7), LGF skupina (n = 21), CH skupina (n = 7), CCL skupina (n = 6), 2-4 MCL skupina (n = 9) i 4-7 MCL skupina (n = 12). Slijedom navedenih skupina, aktivnost arginaze bila je 0,056 ± 0,017, 0,100 ± 0,016, 2,517 ± 0,521, 0,827 ± 0,190, 0,674 ± 0,106 i 0,833 ± 0,093 U/mg. Aktivnost arginaze u CH skupini bila je signifikantno viša u odnosu na skupine CCL, 2-4 MCL i 4-7 MCL (P<0,001). Najniža aktivnost enzima bila je u skupinama MGF i LGF. Zaključeno je o mogućoj ključnoj ulozi aktivnosti enzima arginaze u diobi stanica, proliferaciji i diferencijaciji ovarijskih tkiva (osobito CH) kod odraslih krava

Late-onset polyucosan body myopathy in five patients with a homozygous mutation in GYG1

International audienceFive Sardinian patients presented in their 5th or 6th decade with progressive limb girdle muscle weakness but their muscle biopsies showed vacuolar myopathy. The more or less abundant subsarcolemmal and intermyofibrillar vacuoles showed intense, partially α-amylase resistant, PAS-positive deposits consistent with polyglucosan. The recent description of late-onset polyglucosan myopathy has prompted us to find new genetic defects in the gene (GYG1) encoding glycogenin-1, the crucial primer enzyme of glycogen synthesis in muscle.We found a single homozygous intronic mutation harbored by five patients, who, except for two siblings, appear to be unrelated but all five live in central or south Sardinian villages