[Research progress of non-alcoholic fatty liver disease in postmenopausal women].

Non-alcoholic fatty liver disease (NAFLD) is a common chronic liver disease with a risk of developing non-alcoholic hepatitis, cirrhosis and liver cancer. Postmenopausal women have an increased risk of developing metabolic diseases including NAFLD under the influence of various factors such as aging, endocrine and metabolic changes. This article summarizes the latest research of NAFLD in postmenopausal women to elaborate and analyze the epidemiological characteristics, correlation between NAFLD and postmenopause, possible pathogenesis as well as feasible prevention and treatment methods.

GENOME-WIDE MAPPING OF COPY NUMBER VARIATIONS IN COMMERCIAL HYBRID PIGS USING A HIGH-DENSITY SNP GENOTYPING ARRAY.

Copy number variations (CNVs) are important forms of structural variation in human and animals and can be considered as a major genetic component of phenotypic diversity. Here we used the Illumina PorcineSNP60 BeadChip V2 and a DLY [Duroc x (Large White x Landrace)] commercial hybrid population to identify 272 CNVs belonging to 165 CNV regions (CNVRs), of which 66 are new. As CNVRs are specific to origin of population, our DLY-specific data is an important complementary to the existing CNV map in the pig genome. Eight CNVRs were selected. for validation by quantitative real-time PCR (qRT-PCR) and the accurate rate was high (87.25%). Gene function analysis suggested that a common CNVR may play an important role in multiple traits, including growth rate and carcass quality.

Bioinformatics analysis of gene expression profiles in the rat cerebral cortex following traumatic brain injury.

BACKGROUND: Traumatic brain injury (TBI) is a serious neurodisorder commonly caused by sports related events or violence. It is the leading cause of disability in people under 40. AIM: In order to elucidate the molecular mechanism of the secondary injury after TBI. MATERIALS AND METHODS: In this study, we downloaded gene expression profile on TBI model with sham controls for gene set enrichment analysis and pathway analysis. RESULTS: At a q-value of 5%, 361 genes were up-regulated and 373 were down-regulated in samples obtained at 48 hours after TBI. Functional analyses revealed that steroid biosynthesis, cell cycle, metal ion transport, inflammation and apoptosis were significantly dysregulated during the late period after trauma. In addition, MAPK3 (mitogen-activated protein kinase 3), was identified as the hub node in the protein-protein interaction (PPI) network constructed by the differentially expressed genes (DEGs). CONCLUSIONS: Further elucidation of genes and proteins in our study may reveal their potential as novel therapeutic targets.

Spinocerebellar ataxia type 1 in China: molecular analysis and genotype-phenotype correlation in 5 families.

BACKGROUND: Twelve genetic types of autosomal dominant hereditary ataxia have been recently identified and the genes responsible for most of them cloned. Molecular identification of the type of ataxia is important to determine the disease prevalence and its natural history in various populations. OBJECTIVES: To perform molecular analysis of 75 Chinese families affected with spinocerebellar ataxia (SCA) and to evaluate the spectrum of mutations in these genes and the correlation between genotypes and phenotypes in Chinese patients. SETTING: Neurogenetics Unit, China-Japan Friendship Hospital, Beijing, China. METHODS: One hundred nine patients from 75 kindreds diagnosed as having autosomal dominant SCA, 16 patients with sporadic SCA or spastic paraplegia, 280 control chromosomes of the Chinese population, and 120 control chromosomes of the Sakha population were selected for this study. We conducted detailed mutational analysis by direct sequencing of polymerase chain reaction products amplified from genomic DNA. RESULTS: Spinocerebellar ataxia type 1 (SCA1) was identified in 5 families with 12 studied patients. All affected family members were heterozygous for a CAG repeat expansion in the SCA1 gene containing 51 to 64 trinucleotide repeats. Normal alleles had 26 to 35 repeats. Spinocerebellar ataxia type 1 accounted for 7% of the studied Chinese families with ataxia. In addition, we determined the frequency of a single vs double CAT interruption in 120 control chromosomes of the Siberian Sakha population, which has the highest known prevalence of SCA1, and compared this with 280 control chromosomes from the Chinese populations. The results show that 64.7% of the Siberian normal alleles contain a single CAT interruption, whereas 92% of the Chinese had more than 1 interruption. CONCLUSIONS: Spinocerebellar ataxia type 1 is responsible for 7% of affected families in the Chinese population. A correlation between the prevalence of SCA1 and the number of CAT interruptions in the trinucleotide chain suggests that a CAT-to-CAG substitution may have been the initial event contributing to the generation of expanded alleles and influencing relative prevalence of SCA1.

Spinocerebellar ataxia type 2 in China: molecular analysis and genotype-phenotype correlation in nine families.

Sixteen patients from nine Chinese families with spinocerebellar ataxia type 2 (SCA2) were heterozygous for a CAG repeat expansion in the SCA2 gene containing 37 to 56 repeats, whereas the normal alleles carried 14 to 28 repeats. One or two CAA triplets within the CAG tract were seen in normal, but not in the expanded alleles. A strong inverse correlation was established between the number of CAG repeats and the age of disease onset. SCA2 accounted for 12% of the known Chinese families with spinocerebellar ataxia.

Machado-Joseph disease in four Chinese pedigrees: molecular analysis of 15 patients including two juvenile cases and clinical correlations.

Machado-Joseph disease (MJD) is an autosomal dominant neurodegenerative disorder associated with the expansion of a (CAG)n array in the MJD1 gene. We analyzed the sizes of the (CAG)n array using DNA samples from 61 members of four Chinese MJD families and 18 Chinese normal control subjects and confirmed that the (CAG)n array in 15 MJD chromosomes was expanded to 72-86 repeat units. There were no subjects with (CAG)n array sizes intermediate between those of normal and MJD affected groups. Meanwhile, we found a significant negative correlation between the age of onset of symptoms and (CAG)n array size. The largest (CAG)n array of 86 repeat units was in the youngest patient, whose age of onset was 5 years. The intergenerational increase in number of CAG repeat units was associated with the clinical phenomenon of anticipation.

[Bone metabolism in pregnant women].

Serum ionized calcium, tartrate-resistant acid phosphatase (TR-ACP) and alkaline phosphatase (ALP) were measured in 80 pregnant women in different gestational weeks. The results showed that calcium level decreased significantly as the gestation week increased. Calcium level of umbilical cord was higher than that of third trimester of pregnancy. It indicated that calcium could be transported to fetus across the placenta against the concentration gradient. Both TR-ACP and ALP activity elevated as gestation week increased. This may suggest that the bone metabolism is very active in pregnant women.

Alpha-tocopherol content of breast milk in China.

The alpha-tocopherol content of breast milk was measured in 71 mothers of preterm and term infants in China. The mean alpha-tocopherol content of breast milk was much lower than that reported in developed countries. alpha-Tocopherol levels were higher in colostrum and then decreased in the transition milk. Mothers of preterm infants produced colostrum with a slightly higher alpha-tocopherol content than that of the mothers of term infants. However, alpha-tocopherol levels in transition milk were similar in both groups.

PIP: Vitamin E is important in preventing oxidative damage from neonates after birth and their sudden exposure to higher oxygen levels than those in the intrauterine environment. During the first 12 days of breast-feeding, human milk samples were obtained from 28 mothers of preterm infants (gestational age: 28 to 36 weeks; mean birth weight: 2062 +or- 379 g) and 43 mothers of full-term infants (gestational age: 38 to 41 weeks; mean birth weight: 2700 g). All the mothers lived in the city of Guilin in south China, and belonged to middle class families. Only alpha-tocopherol was measured using high performance liquid chromatography with a fluorescence detector. Alpha-tocopherol content of breast milk was calculated using an internal standard. During the first 12 days of breast-feeding, the mean alpha-tocopherol concentrations of breast milk of preterm and term infants were 6.00 and 6.98 mg/l, respectively. In the first 3 days of breast-feeding, alpha-tocopherol concentrations were higher than in the later period. During 3 days of breast-feeding, the alpha-tocopherol concentration was slightly higher (statistically not significant) in the milk of preterm mothers than in that of term mothers. The higher alpha-tocopherol levels in colostrum then decreased and were similar in both groups in the subsequent period. The recommended daily vitamin E requirement for infants has been estimated based on their content in breast milk and the total intake of milk as 3 mg alpha-tocopherol equivalent/day in the US. However, the alpha-tocopherol content in Chinese breast milk was only about half of that reported in Europe, the USA, and Japan. Accordingly, improvement of the total nutrition of Chinese mothers, rather than just vitamin E supplementation, may be required to improve the health of their infants, since the total intake of energy, protein, and fat has been reported to influence the daily dietary vitamin E intake.

Alpha-tocopherol concentrations in human milk from mothers of preterm and full-term infants in China.

alpha-Tocopherol content in breast milk of 28 mothers who delivered preterm infants (preterm milk) and 43 mothers who delivered full-term infants (term milk) were measured. alpha-Tocopherol concentration in preterm milk did not differ significantly from that of term milk in the first 12 days of lactation (P > 0.05). There is a higher alpha-tocopherol concentration in the early colostrum, however, it decreases with the lactational days significantly. The investigation suggests that early breast-feeding would be beneficial to the improvement of vitamin E intake in neonates during the early life.

PIP: In China, clinicians gathered samples of human milk from 28 mothers of preterm infants (gestational age [GA] = 28-36 weeks; mean birth weight = 2062 g) and 43 mothers of full term infants (GA = 38-41 weeks; mean birth weight =or 2700 g) within the first 12 days after delivery at the Affiliated Hospital of Guilin Medical College. To determine the vitamin E content in human milk, they had the alpha-tocopherol (the most biologically active form) content measured. The mean alpha-tocopherol concentration in term milk was 16.11 mcmol/l which is about 50% lower than that reported in term milk in developed countries. In preterm milk, it was 13.95 mcmol/l. The mean alpha-tocopherol level was highest in the early colostrum (first 2-3 days) in both groups (18.06 mcmol/l for preterm milk and 17.22 mcmol/l for term milk) and fell significantly with each day (4-12 days, 11.28-10.86 mcmol/l for preterm milk and 16.44-10 mcmol/l for term milk, respectively; p 0.05). Continued investigation of the preterm milk of 3 mothers for 25 days supported the downward trend in alpha-tocopherol levels. These findings show that early breast feeding would improve the vitamin E intake in neonates.

Effects of seasonality on blood ionized calcium in early neonatal periods.

The levels of whole blood ionized calcium were observed in 200 healthy neonates in the first week of life in spring and in summer. Levels of blood ionized calcium were lower in neonates born in spring compared to those of neonates born in summer. The levels of blood ionized calcium in adults did not change in different seasons. This study suggested that seasonality had a significant effect on blood ionized calcium in early neonatal life.