ABSTRACT
Barth syndrome (BTHS) is an X-linked recessive disease caused by mutations in tafazzin gene (TAZ) which lead to cardiolipin deficiency and mitochondrial dysfunction. Male patients have variable clinical findings, including cardiomyopathy, skeletal myopathy, prepubertal short stature, neutropenia and 3-methylglutaconic aciduria. Female carriers are usually asymptomatic. We report a novel TAZ gene mutation in male and female siblings with left ventricular noncompaction and hypotonia. Additionally, the brother presented an intermittent neutropenia and increased urinary levels of 3-methylglutaconic and 3-methylglutaric acid. The molecular genetic testing showed that both siblings carry the mutation: c.253insC, p.(Arg85Profs*54) in exon 3 of the TAZ gene. This article presents the first case of BTHS in a heterozygous female patient with normal karyotype.
Subject(s)
Barth Syndrome/genetics , DNA Mutational Analysis , Transcription Factors/genetics , Acyltransferases , Adolescent , Barth Syndrome/diagnosis , Bulgaria , Cardiolipins/metabolism , Child , Craniofacial Abnormalities/diagnosis , Craniofacial Abnormalities/genetics , Female , Genetic Carrier Screening , Heart Defects, Congenital/diagnosis , Heart Defects, Congenital/genetics , Humans , Karyotyping , Male , Mitochondrial Diseases/diagnosis , Mitochondrial Diseases/genetics , Muscle Hypotonia/diagnosis , Muscle Hypotonia/genetics , X Chromosome Inactivation/geneticsABSTRACT
Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene and has three phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in newborns, failure to thrive and dyslipidemia caused by citrin deficiency (FTTDCD) in older children, and recurrent hyperammonemia with neuropsychiatric symptoms in citrullinemia type II (CTLN2) in adults. NICCD presents in the first few weeks of life with cholestatic hepatitis syndrome, multiple aminoacidemia and hypergalactosemia. To date almost all reported patients were from East Asia and only few cases from Caucasian origin have been described. We report the first Bulgarian case of NICCD. Mutation screening of the SLC25A13 gene revealed the compound heterozygous mutations c.1081C>T (p.R361*) and c.74C>A (p. A25E) which confirmed the diagnosis of NICCD. The nonsense mutation c.1081C>T (p.R361*) is novel.
Subject(s)
Calcium-Binding Proteins/deficiency , Citrullinemia/genetics , DNA Mutational Analysis , Mitochondrial Membrane Transport Proteins/genetics , Organic Anion Transporters/deficiency , Arginine/blood , Bulgaria , Citrulline/blood , Citrullinemia/blood , Citrullinemia/diagnosis , Citrullinemia/diet therapy , Female , Follow-Up Studies , Galactose/administration & dosage , Genetic Carrier Screening , Humans , Infant, Newborn , Male , Methionine/blood , Mutation, Missense/genetics , Phenotype , Pregnancy , White People/geneticsSubject(s)
Aging/psychology , Behavior, Animal , Conditioning, Classical , Functional Laterality , Animals , Female , Forelimb/physiology , Male , Rats , Rats, Wistar , Reaction Time , Time FactorsSubject(s)
Biomass , Zooplankton/physiology , Animals , Climate , Ecosystem , Environment , Fresh Water , Plankton , Seasons , Time Factors , WaterABSTRACT
Changes of structure and functioning of pelagic zooplankton under lake eutrophication were studied in a group of small (without outlet) lakes in southern Karelia and Leningrad region. The lakes were morphologically similar and located within the same climatic zone. Differences in their trophic status were connected with anthropogenic eutrophication. Correlation between species number and feeding resources of a lake is determined as: Y = (8.01 +/- 3.85) + (0.29 +/- 0.07)X1 + (6.75 +/- 1.52)X2, r2 = 0.95, (1) Y--number of zooplankton species, X1--average chlorophyll concentration for the season, mg/1; X2--average value of biochemical oxygen demand (expressed in mgC/1). Average biomass of zooplankton for season also depends on food: logY = (-0.054 +/- 0.224) + (0.242 +/- 0.094)logX1 + (0.170 +/- 0.179)logX2, n = 13, r2 = 0.87, (2) Y--average zooplankton biomass for the season, kcal/m3, X1 and X2 the same as (1). Increase in species number and zooplankton bimass determined primarily by Rotatoria occur in parallel to chlorophyll concentration and activity of bacteria. In acid lakes rotifers are not important in energy balance. In mezotrophic lakes two main energy paths are formed--through rotifers and through Crustacea. The role of rotifers is extremely important in eutrophic lakes where about 80% of energy paths through them. The ratio community production to energy consumption for the growing season is also depended on the community structure (species number, equitability, connectence): Y = (2.257 +/- 0.026) - (0.368 +/- 0.031)X1 + (5.160 +/- 0.442)X2, r2 = 0.99, (3) Y--average seasonal production of zooplankton, kcal/m2; X1--maximal meaning of Shannon index (bites), calculated on biomass value; X2--connectence of the community, calculated according Briand (1983). Eutrophication changes the stability of lakes relative to external influences, while low productive lakes are very sensitive to the increase in nutrient load, high productive lakes are more influenced by changes in fish predation.
Subject(s)
Fresh Water , Zooplankton/physiology , Animals , RussiaABSTRACT
Light hexenal anesthesia was found not to affect the mean values of hemodynamics and O2 tension in the blood but increased the CO2 tension in arterial blood and decreased the oxyhemoglobin content and pH of the blood in dogs.
