Анализ полиморфизма гена SlMYB12, детерминирующего биосинтез халкон-нарингенина в кожице плодов томата, и его влияния на накопление ликопина

Efficiency in detecting of tomato forms with no chalcone-naringenin flavonoid in pink-fruited and yellow-fruited forms was evaluated using DNA markers for various polymorphisms of the SlMYB12 gene. The closest relationship between a phenotype with the transparent skin of fruits and a deletion in the promoter region of the SlMYB12 gene was shown. The highest efficiency in the detection of the recessive y allele of the regulatory SlMYB12 gene, leading to the chalcone-naringenin synthesis disruption and skin transparency, was established by a combination of markers MYB12-603delaF1/603del-aR6 (Myb-603del aF1/R6) and MYB12-603del-aF1/603del-aR5 (Myb12 aF1/R5). Fruit coloration peculiarities were shown depending on a combination of the structural alleles of a carotenoid biosynthesis pathway and SlMYB12 gene alleles. A combination of this y allele with the alleles of the gene of the lycopene-β-cyclase beta (b) and old gold crimson (ogc ) allows selecting pink and raspberry forms respectively. In tomato accessions with yellow and orange fruits, the y allele provides pale shades of the main coloration determined by carotenoid biosynthesis genes (yellow flesh (r), tangerine (t), Beta (B)). The presence of SNP T → C of the SlMYB12 gene (171476848 position of chromosome 1) was identified in 80 % of accessions with the transparent skin of fruits of the evaluated collection. The effect of the recessive y allele of the SlMYB12 gene on an increase in the lycopene concentration of tomato fruits in a combination with b, ogc alleles was shown. Using MAC methods by fruit quality genes, including the SlMYB12 gene, the cherry tomato variety Malinovyj koktel with a high lycopene accumulation was developed and included in the State RegisterОценена эффективность выявления форм томата с отсутствием флавоноида халкон-нaрингенина в розовоплодных и желтоплодных формах с помощью ДНК-маркеров к различным полиморфизмам гена SlMYB12. Показана наиболее тесная связь между фенотипом с прозрачной кожицей плодов и делецией в промоторной области гена SlMYB12. Установлена наибольшая эффективность выявления рецессивного аллеля y регуляторного гена SlMYB12, приводящего к нарушению синтеза халкон-нaрингенина и прозрачности кожицы, сочетанием маркеров MYB12-603del-aF1/603del-aR6 (Myb-603del aF1/R6) и MYB12-603del-aF1/603del-aR5 (Myb12 aF1/R5). Показаны особенности окраски плодов в зависимости от комбинации структурных аллелей пути биосинтеза каротиноидов и аллелей гена SlMYB12. Сочетание данного аллеля у с аллелями гена ликопин-β-циклазы bеta (b) и old gold crimson (ogc ) позволяет отобрать розовые и малиновые формы соответственно. У образцов томата с желтой и оранжевой окраской плодов аллель у обеспечивает бледные оттенки основных окрасок, обусловленных генами биосинтеза каротиноидов (yellow flesh (r), tangerine (t), Beta (B)). Выявлено наличие SNP Т → С гена SlMYB12 (позиция 71476848 хромосомы 1) у 80 % образцов с прозрачной кожицей плодов оцениваемой коллекции. Показано влияние рецессивного аллеля y гена SlMYB12 на увеличение концентрации ликопина в плодах томата в комбинации с аллелями b, ogc . С использованием методов МАС по генам качества плодов, в том числе по гену SlMYB12, создан и включен в Государственный реестр сорт томата черри Малиновый коктейль с высоким накоплением ликопина

THE PREVENTION, DIAGNOSIS, AND TREATMENT OF VITAMIN D AND CALCIUM DEFICIENCIES IN THE ADULT POPULATION OF RUSSIA AND IN PATIENTS WITH OSTEOPOROSIS (ACCORDING TO THE MATERIALS OF PREPARED CLINICAL RECOMMENDATIONS)

The paper presents data on the role of vitamin D and calcium in the function of many human organs and tissues. Lifestyle, dietary preferences, and insufficient physical activity contribute to the high prevalence of vitamin D and calcium deficiencies in the adult population of Russia, causing different diseases and abnormalities. The authors have worked out recommendations for the preventive use of vitamin D and calcium in healthy population, give consumption rates for these substances, and describe the clinical and laboratory signs of vitamin D deficiency and indications for screening. They also propose treatment regimens for vitamin D deficiency and depict the signs of intoxication inoverdose. Particular emphasis is laid on the place of vitamin D and calcium in the therapy of osteoporosis

Primary osteoporosis prophylaxis with different calcium preparations

Objective. To assess efficacy of different modes of management in women with osteopenia. Material and methods. 190 women with osteopenia of spine and/or femoral neck aged 50 to 70 years (mean 60,6±5 years) were followed up during a year. Different modes of prophylaxis were applied. 59 pts of group 1 received Calcium D3 Nicomed 2 tablets a day, 25 pts of group 2 - Vitrum Osteomag 2 tablets a day, 46 pts of group 3 - calcium carbonate 2500 mg/day, 60 pts of control group received recommendations about diet and physical activity. Results. 3,5% from 114 pts examined had normal 25(OH)D blood level while 23% showed deficiency of vitamin D. Mean calcium consumption with milk products was 350 mg/day. Bone mineral density (BMD) significantly increased on 1,6-1% in pts older than 60 years receiving Vitrum Osteomag and Calcium D3 Nicomed respectively while younger pts did not show such changes. BMD in pts olderthan 60 years receiving calcium carbonate increased on 0,5% but this difference was not significant. Tolerability of all 3 drugs was comparable

Comparative evaluation of denosumab efficacy of in patients with rheumatoid arthritis and postmenopausal osteoporosis: results of 1-year study in clinical practice

Objective: to assess bone mineral density (BMD) changes in rheumatoid arthritis (RA) patients with osteoporosis (OP) and in women with postmenopausal OP during therapy with denosumab (DSB) for 1 yearSubjects and methods. 121 women were included: the main group – 69 patients with RA (mean age – 60±7 years), 34 (49.3%) from them received glucocorticoids (GC). Comparison group comprised 52 women with primary OP (mean age – 62±10 years). Measurement of BMD using dual-energy X-ray absorptiometry (DXA) was performed in the lumbar spine (LI–IV), femoral neck (FN), proximal femur as a whole (PF) and distal forearm (DF). DSB was administered subcutaneously at a dose of 60 mg 1 time in 6 months.Results and discussion. In patients with RA, the average increase of BMD for 12 months of treatment was: in LI–IV – 4.6%, in FN-2.8%, in PF-3.0% and in DF-0.7%, and in the comparison group – 5.2; 2.1; 2.9 and 0.9%, respectively. There were no significant differences of BMD changes between the groups. Efficacy of DSB therapy in RA patients with OP did not depend on RA activity, duration of GC therapy and cumulative dose of GC. Adverse events that did not lead to the withdrawal of the drug were noted in 3% of the study participants. There were no fractures during the observation.Conclusion. The efficacy treatment with DSB for 1 year in RA patients with OP and in women with postmenopausal OP is comparable. The use of GC did not have a negative impact on DSB effect

MOLECULAR GENETIC TESTING OF OSTEOPOROSIS SUSCEPTIBILITY IN POSTMENOPAUSAL WOMEN IN MOSCOW

Polymorphisms of 21 genes involved in the processes of bone remodeling were studied on samples of 150 to 265 postmenopausal healthy women in a control group and those of 175 to 269 patients with osteoporosis (OP). In a Moscow sample of postmenopausal women, the genotypes of OP susceptibility were found to be the CT genotype of the low-density lipoprotein receptor-related protein 5 (LRP5) gene, the GG genotype of the leptin (LEP) gene, the XX genotype of the estrogen receptor a (ER-a) gene, the Ff genotype of the vitamin D receptor (VDR) gene, the HH genotype of the a1 polypeptide chain of type II collagen gene and the GG genotype of the aromatase (CYP19) gene. The interaction of a number of genes to develop OP susceptibility was ascertained to be compliant. For example, the carriage of the CTxx genotypes of the LRP5/ERa genes, the CTGG genotypes of the LRP5/CBFA genes, the CCGA genotypes of the TGF/31/CYP19 genes, and the CCAA genotypes of the TGF/31/OPG genes increases a risk for OP by 7.7, 4.1, 6.2, and 2.7 times, respectively. The genotypes increasing the risk of spinal osteoporotic fractures were AG of 163A/G polymorphism in the osteoprotegerin (OPG) gene, TT of 509C^T polymorphism in the TGF/31 gene, and BB of BsmI polymorphism in the VDR gene (OR = 4.9, 3.9, and 4.4, respectively). The genotype of a risk for osteoporotic fractures at other sites was AG of A19G polymorphism in the LEP gene (OR = 2.6)

Strontium ranelate in the treatment of postmenopausal osteoporosis: results of administration in clinical practice

Strontium ranelate (Bivalos) is a new drug with dual mechanism of action for the treatment of postmenopausal osteoporosis (OP) Objective. To assess efficacy and tolerability of bivalos in women with postmenopausal osteoporosis in a one year multicentre open study. Material and methods. 60 postmenopausal women (mean age 63,6+5,7 years) with spine OP (mean T-criterion -3,1 ±0,4 SD) received strontium ranelate2 g/day during a year. 5 visits were performed (scrining, inclusion, 3, 6 and 12 months). Markers of bone metabolism were evaluated at inclusion, 3 and 12 months. Densitometry was performed at scrining and after 12 months. At all visits pain in spine was assessed with a 5 point scale and adverse events were recorded. Results. BMD increase in lumbar spine was +4,68%, in femur neck - +2% and in general femur value — +3,1% after 12 months of treatment (p<0,01) in comparison with baseline level. Among pt completed the treatment BMD increase in spine above 2% was achieved in 78% of pt. In 41% from them it exceed 6%. BMD increase in femur neck above 2% was achieved in 41% and in general femur value — in 67% of pts. 11% of pts showed deterioration in studied skeleton regions and did not respond to the therapy. During the treatment osteogenesis marker increased by 19,6% and bone resorption marker decreased by 16,7%. Adverse events related to strontium ranelate administration appeared in 9 (15%) pts including diarrhea, leg spasms, myalgia, shortness of breath and dry cough, nausea, gastric ulcer exacerbation. The drug was withdrawn due to adverse eventsin only 3 (5%)