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To unravel the genetic mechanisms of disease and physiological traits, it requires comprehensive sequencing analysis of large sample size in Chinese populations. Here, we report the primary results of the Chinese Academy of Sciences Precision Medicine Initiative (CASPMI) project launched by the Chinese Academy of Sciences, including the de novo assembly of a northern Han reference genome (NH1.0) and whole genome analyses of 597 healthy people coming from most areas in China. Given the two existing reference genomes for Han Chinese (YH and HX1) were both from the south, we constructed NH1.0, a new reference genome from a northern individual, by combining the sequencing strategies of PacBio, 10× Genomics, and Bionano mapping. Using this integrated approach, we obtained an N50 scaffold size of 46.63 Mb for the NH1.0 genome and performed a comparative genome analysis of NH1.0 with YH and HX1. In order to generate a genomic variation map of Chinese populations, we performed the whole-genome sequencing of 597 participants and identified 24.85 million (M) single nucleotide variants (SNVs), 3.85 M small indels, and 106,382 structural variations. In the association analysis with collected phenotypes, we found that the T allele of rs1549293 in KAT8 significantly correlated with the waist circumference in northern Han males. Moreover, significant genetic diversity in MTHFR, TCN2, FADS1, and FADS2, which associate with circulating folate, vitamin B12, or lipid metabolism, was observed between northerners and southerners. Especially, for the homocysteine-increasing allele of rs1801133 (MTHFR 677T), we hypothesize that there exists a "comfort" zone for a high frequency of 677T between latitudes of 35-45 degree North. Taken together, our results provide a high-quality northern Han reference genome and novel population-specific data sets of genetic variants for use in the personalized and precision medicine.
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BACKGROUND:Transforming growth factor-βsignaling widely existing in cel s mediates cel growth, proliferation, migration, differentiation, and apoptosis. The activation of transforming growth factor-βsignaling can result in muscular dystrophy. However, there have been some contradictions regarding the effects of the transforming growth factor-βsignaling on muscular dystrophy. OBJECTIVE:To summarize the latest progress in the effects of the transforming growth factor-βsignaling on muscle mass and function regulation to provide the solutions for the treatment of muscular dystrophy. METHODS:A computer-based online search was conducted in PubMed and Wanfang databases from 2005 to 2015 to screen the relevant literatures using Chinese and English key words“transforming growth factor-β, muscle, regulation mechanism, treatment”. A total of 102 literatures were retrieved, and 22 eligible literatures were included, summarized, and analyzed. RESULTS AND CONCLUSION:The activation of transforming growth factor-βsignaling as a common cause of most muscle disorders promotes the activation of muscle satel ite cel s, differentiation of myocytes, myoblast infusion, the expression of muscle-specific proteins, and the inhibition of col agen synthesis, which facilitates muscular fibrosis and scar formation. Transforming growth factor-βsignaling is involved in Duchenne muscular dystrophy, spinal scoliosis, type I diabetes induced skeletal muscle regenerative disorders, myocardial and cardiac remodeling. The inhibition of transforming growth factor-βsignaling may result in incomplete muscle recovery.
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BACKGROUND:There is an urgent need to explore the loss of skeletal muscle mass during aging (sarcopenia), and its molecular mechanisms of action, and prevention and treatment strategies. OBJECTIVE:To summarize the latest progress in molecular mechanisms of sarcopenia, and to provide a fundamental for promoting functional recovery and regeneration of skeletal muscle. METHODS:A computer-based online search was conducted in PubMed and Wanfang databases from 2005 to 2015 to screen the relevant literatures using Chinese and English key words“sarcopenia, skeletal muscle, mechanism, therapy”, respectively. Consequently, 31 eligible literatures were col ected, summarized, and analyzed. RESULTS AND CONCLUSION:Sarcopenia is closely correlated with oxidative stress caused by mitochondrial respiratory failure, inhibition of activating factors for regulating satel ite cel s, reduction in insulin secretion, decreased sensitivity, protein synthesis, and low protein diet. There are common features and molecular mechanisms in sarcopenia and disuse muscle atrophy. Further exploration of exercise and diet strategies for the treatment of sarcopenia is required.
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<p><b>OBJECTIVE</b>To investigate the chemical constituents of the flowers of Chrysanthemum indicum.</p><p><b>METHOD</b>The chemical constituents were isolated by various column chromatographic methods. The structures were identified by spectral data.</p><p><b>RESULT</b>Twelve compounds were isolated and identified as acacetin (1), tricin (2), 2',4'-dihydroxychalcone(3), 5-hydroxy-4',7-dimethoxyflavon(4),7hydroxyflavonone (5), isorhamnetin (6),5,6,7-trihydroxy- 3',4', 5'-trimethoxyflanon (7 ), quercetin (8) , (3 beta, 5 alpha, 6 beta, 7 beta, 14 beta)-eudesmen-3,5,6,11-tetrol (9), syringaresinol (10), liriodendrin (11), and genkwanin (12).</p><p><b>CONCLUSION</b>Compounds 3-7, 10-12 were isolated from this species for the first time, and compounds 3, 5, 7, 10, 11 were obtained from genus Chrysanthemum for the first time.</p>
Subject(s)
Chalcones , Chrysanthemum , Chemistry , Flavones , Flavonoids , Flavonols , Flowers , Chemistry , Furans , Glucosides , Lignans , QuercetinABSTRACT
Lactate shuttle is the process of lactic migration thmugh membrane with monocarboxylate transporters(MCTs)and anti-exchange ion,including intracellular and extracellular modes.The effect of MCTs specific distribution on lactate shuffle and the structure and mechanism of anti-exchange ion transporter is unclear.Any factor which infiuences lactate production.oxidation,MCTs expression and blood circulation can regulate lactate shuttle.That lactate induces ASIC channel to open may affect the Sensory nerve bnnging about pain.Various lactate shuttles may induce vanous kinds of pain,Ageing,but not inactivity,decrease lactate accumulation and shuttle leading to the decreased fatigability of skeletal muscle.The regulation mechanism and energy supply extend of lactate shuttle need to be investigated.Lactate shuttle may be one important factor to regulate the biological effect of lactate such as vanous muscle pain,fatigability and etc.Lactate shuffle effect on body function regulation is a noticeable problem in muscle rehabilitation and excise-inducad adaption fields.
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Most previous researches on nuclear factor κB (NFκB) are limited to immune cells. Recently, however, researches on NFKB in muscle cells attract more attention. Target genes of NFκB encodes proteins with different functions, accordingly NFκB can not only induce inflammation deterioration, protein degradation and tissue injury but also promote cell growth and maintenance. But the inhibitation effect of NFκB inhibitors is not related with its antioxidant capacity. Exercise can activate NFκB during which process NFκB may act as an inducer of cell growth and development which is different from its role under pathological situation. This article sums up and analyzes the effect of NFκB on cell growth, the changing trend and effect of NFκB in skeletal muscle under exercise, providing data for the researches on muscle rehabilitation and motion fitness change.
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Objective To study the imaging characteristics of the ligaments in craniocervical junction (CCJ), and to optimize the examination methods and scanning sequences of the ligaments in this region. Methods Two groups of 51 healthy volunteers in each were selected to undergo CT and MRI examination respectively. The CT and MRI features of the ligaments in CCJ were assessed. Two senior imaging doctors compared the results of showing the ligaments in CCJ by several MRI sequences, including T1 WI ,T2 WI, proton density weighted imaging (PDWI), T2 * WI and short time inversion recovery (STIR) ,and proton density fat saturate (PDFSAT). Standard normal rank transformation was done according to the primary data,and then analysis of variance of repeated measurement was applied. Results CT and MRI could both demonstrate the ligaments (except the anterior atlantooccipital membrane only seen on MRI) and their adjoins in CCJ, while MRI had more advantages than CT. The display ratio of the anterior atlantooccipital membrane was 100% (51/51) by MRI. The display ratio of the apical ligament was 29.4%(15/51) by CT and 43.1% (22/51) by MRI. The posterior atlantooccipital membrane-dura complex,tectorial ligament-dura complex, transverse ligament, and alar ligament could be demonstrated clearly by CT and MRI, the display ratio was 100% respectively (51/51). The results of PDWi scored by two doctors were both 5.0, there were no significant differences between them (F = 0.000, P > 0.05), which were significantly higher than T, WI (M = 3.0), T2Wi (M = 3.0), T2 * WI (M = 1.0), STIR (M = 1.0), and PDFSAT(M = 3.0)(P < 0.01). Conclusion MRI was superior to CT in demonstrating the ligaments in CCJ. PDWI was the optimal MRI sequence. Imaging research of normal ligamentous structures in CCJ could provide valuable diagnostic and therapeutic information for evaluating the ligamentous diseases.