Evidence for pre-climacteric activation of AOX transcription during cold-induced conditioning to ripen in European pear (Pyrus communis L.).

European pears (Pyrus communis L.) require a range of cold-temperature exposure to induce ethylene biosynthesis and fruit ripening. Physiological and hormonal responses to cold temperature storage in pear have been well characterized, but the molecular underpinnings of these phenomena remain unclear. An established low-temperature conditioning model was used to induce ripening of 'D'Anjou' and 'Bartlett' pear cultivars and quantify the expression of key genes representing ripening-related metabolic pathways in comparison to non-conditioned fruit. Physiological indicators of pear ripening were recorded, and fruit peel tissue sampled in parallel, during the cold-conditioning and ripening time-course experiment to correlate gene expression to ontogeny. Two complementary approaches, Nonparametric Multi-Dimensional Scaling and efficiency-corrected 2-(ΔΔCt), were used to identify genes exhibiting the most variability in expression. Interestingly, the enhanced alternative oxidase (AOX) transcript abundance at the pre-climacteric stage in 'Bartlett' and 'D'Anjou' at the peak of the conditioning treatments suggests that AOX may play a key and a novel role in the achievement of ripening competency. There were indications that cold-sensing and signaling elements from ABA and auxin pathways modulate the S1-S2 ethylene transition in European pears, and that the S1-S2 ethylene biosynthesis transition is more pronounced in 'Bartlett' as compared to 'D'Anjou' pear. This information has implications in preventing post-harvest losses of this important crop.

The assessment of the relationship between personality, the presence of the 5HTT and MAO-A polymorphisms, and the severity of climacteric and depressive symptoms in postmenopausal women.

The purpose of this study is to determine the relationship between personality, the serotonin transporter (5HTT) and monoamine oxidase A (MAO-A) polymorphisms and the severity of climacteric and depressive symptoms in postmenopausal women. The study involved 272 healthy postmenopausal women from Poland. This survey-based study was performed using the following: the Beck Depression Inventory for depressive symptoms, the Blatt-Kupperman Menopausal Index and the Neuroticism-Extroversion-Openness-Five Factor Inventory for personality. A polymerase chain reaction was employed to identify the DNA polymorphisms. The women were aged 55.4 ± 5.5 years on average. Significant correlations were proved between the allele frequency of the 30-bp variable-number tandem repeat (VNTR) polymorphism in the MAO-A promoter region and the incidence of depressive symptoms in the women analysed (p ≤ 0.05), as well as between the severity of climacteric symptoms in the postmenopausal women and the allele frequency of the polymorphism in the 5HTT gene (the 5HTT 's' variant) (p ≤ 0.05). There was a significant correlation between the severity of climacteric and depressive symptoms (p < 0.001). (1) The severity of climacteric and depressive symptoms depends on personality traits. (2) Personality traits are biologically determined, and the level of their expression is associated with the 5HTT polymorphism. (3) Identification of homogeneous groups of women having predispositions to depressive and severe climacteric symptoms may help to implement early prevention programmes for this group of recipients.

The 5HTT and MAO-A polymorphisms associate with depressive mood and climacteric symptoms in postmenopausal women.

OBJECTIVE: The aim of this study was to assess the influence of the 44-bp polymorphism in the 5HTTLPR (SLC 6A4) (serotonin-transporter-linked polymorphic region, solute carrier family 6 member 4) promoter region and the 30-bpVNTR (variable number of tandem repeats) polymorphism in the MAO-A (monoamine oxidase A) promoter region on the prevalence of depressive mood and the severity of climacteric symptoms in postmenopausal women. MATERIAL AND METHODS: The study involved 630 women from northern Poland who had their last menstrual period at least one year before the study. The women did not abuse alcohol or cigarettes, had not been diagnosed as having endocrinological, cancerous or mental diseases, and had not received psychiatric treatment by the time. This survey-based study was performed using the following research instruments: the Beck Depression Inventory (BDI), to evaluate depressive symptoms, and the Blatt-Kupperman Menopausal Index, to measure the severity of climacteric symptoms. RESULTS: The average age of the women was 57.5 ± 6.4 years. Depressive symptoms of different severity according to the BDI were diagnosed in 29.2% of the women (minor-18.6%, moderate-7.1%, severe-3.5%) and according to the Blatt-Kupperman Menopausal Index were diagnosed in 42% of the women (minor-24.1%, moderate-9.2%, severe-8.7%). Allele 'l' was significantly more common in the women without climacteric symptoms than those with minor, moderate or severe climacteric complaints (p ≤ 0.05). There was a significant correlation between the severity of climacteric and depressive symptoms (p ≤ 0.05). The women who had severe climacteric symptoms also had more severe depressive symptoms. CONCLUSIONS: 1. The 5HTTLPR gene polymorphism contributes to climacteric symptoms in postmenopausal women. 2. The Blatt-Kupperman Menopausal Index is an instrument which can not only be used for the measurement of the severity of climacteric symptoms but also the early detection of perimenopausal women at the risk of developing depressive symptoms.

Caracterización del síndrome climatérico según la escala Cubana / Characterization of the climacteric syndrome according to the scale Cuban

Antecedentes: aunque en el mundo existen desde hace algún tiempo diferentes escalas para valorar la severidad del síndrome climatérico, en Cuba no había un instrumento similar hasta que investigadores de la Escuela Nacional de Salud Pública (ENSAP) lo elaboraron. Objetivo: caracterizar el síndrome climatérico en un grupo de mujeres de 40 a 59 años de edad...

A study of 17beta-estradiol-regulated genes in the vagina of postmenopausal women with vaginal atrophy.

BACKGROUND: Vaginal atrophy (VA) is a prevalent disorder in postmenopausal women that is characterized by decreased epithelial thickness, reduced vaginal maturation index (VMI) and increased vaginal pH. Current medical therapy consists of local or systemic replacement of estrogens. OBJECTIVE: The goal of this study was to understand, at a molecular level, the effect of estradiol (E2) on the vaginal epithelium. METHODS: Nineteen women were treated with E2 delivered through a skin patch at a dose of 0.05mg/day for 12 weeks. The diagnosis of VA was confirmed by a VMI with < or =5% superficial cells and vaginal pH>5.0. Vaginal biopsy samples were collected at baseline and after treatment. Differentially expressed mRNA transcripts in these biopsies were determined by microarray analysis. RESULTS: All 19 subjects had increased VMI (>5%) and/or reduced pH (< or =5) following treatment. Most subjects also had increased serum E2 levels and reduced serum FSH levels. Transcriptional profiling of vaginal biopsies identified over 3000 E2-regulated genes, including those involved in several key pathways known to regulate cell growth and proliferation, barrier function and pathogen defense. CONCLUSIONS: E2 controls a plethora of cellular pathways that are concordant with its profound effect on vaginal physiology. The data presented here are a useful step toward understanding the role of E2 in vaginal tissue and the development of novel therapeutics for the treatment of VA.

Menstrual profile and early menopause in women with Down syndrome aged 26-40 years.

BACKGROUND: It is known that women with Down syndrome can be fertile, but it is not known whether all women with Down syndrome are fertile or sub-fertile. The age at menopause for women with Down syndrome is lower compared to women without Down syndrome. METHOD: A cross-sectional study of 11 women was undertaken, in which the participating women had a blood sample taken and were also examined using transabdominal ultrasound scanning (ULS). RESULTS: Definite signs of ovulation were evident in 2 women; hormone values in 5 women showed that they were in the luteal phase of the menstrual cycle; 1 woman was anovulatory; and in 1 woman it was not possible to judge the time of the menstrual cycle. Two of the women were postmenopausal according to medical information, ultrasound examination and hormone values. CONCLUSIONS: Safe contraceptives should be considered and offered if women with Down syndrome are engaging in sexual relations. Early menopause (before the age of 40 years) and the possibility of hormonal replacement therapy should be kept in mind.

Endocrinología de la menopausia: consecuencias metabólicas / Endocrinology of the menopause: metabolic outcomes

La menopausia es un estado fisiológico de la mujer, parte del proceso natural de envejecimiento, caracterizado por el cese de la secreción hormonal ovárica. La falta de secreción estrogénica por los ovarios dará lugar a una modificación funcional del eje hipotálamo-hipófisis- ovario, que se produce de manera paulatina años previos y posteriores a la última regla. Estos cambios hormonales darán lugar a una serie de síntomas psíquicos y vasomotores, y orgánicos en el aparato urogenital. Con el tiempo podrán afectarse otros órganos y sistemas, dando lugar a alteraciones metabólicas, cardiovasculares y óseas

The menopause is a physiological state of the woman, a part of the natural process of aging, characterized by the end of hormone ovarian secretion. The fall of estrogen secretion in ovaries result in a modification of hypothalamichypofise- ovarian axis, by producing progressive changes before and after years to the last menstruation. This hormonal changes will result in several vasomotor and psychological symptoms, and organic symptoms in urogenital system. After other organs and systems could be affected, by producing metabolic, cardiovascular and bone alterations

Menopausia y obesidad / Menopause and obesity

Una de cada dos mujeres menopáusicas presenta sobrepeso u obesidad. La menopausia se acompaña frecuentemente de un aumento progresivo de peso con una distribución androide de la grasa corporal. El incremento de peso y el acúmulo de grasa visceral parecen relacionados con el ambiente hormonal característico del periodo climatérico de la mujer. La distribución central de la grasa corporal se ha asociado con un incremento de riesgo de enfermedad cardiovascular que, al menos en parte, se puede prevenir con el tratamiento hormonal sustitutivo

Every one of the two postmenopausal women have overweight or obesity. Menopause is often associated with an accelerated increase in body weight, with a prevalent android fat distribution. The changes of body weight and body fat distribution seem to be related with the hormonal milieu characteristics of the climateric period in women. Central body fat distribution has been associated to a series of endocrine and metabolic consequences related to an increased risk of cardiovascular disease, that can be counteracted, at least in part, by hormonal replacement therapy

Estudo do marcador genético de osteoporose COLI AI, atraves de diferentes enzimas de restrição, em mulheres climatericas brasileiras / Osteoporosis genetic markers study (COLI AI) with diferent restrictions enzimes, in Brazilian climateric women

Os objetivos do trabalho foram estudar o polimorfismo do gene do colageno tipo alfa 1 (COLI AI) como marcador genetico, comparado a densidade mineral...

Characterization of common genetic variants in cathepsin K and testing for association with bone mineral density in a large cohort of perimenopausal women from Scotland.

UNLABELLED: BMD values in approximately 3000 perimenopausal Scottish women were adjusted by regression to identify and account for nongenetic factors. Adjusted BMD values were not associated with simple tandem repeat (STR) markers or single nucleotide polymorphisms (SNPs) at the Cathepsin K (CTSK) locus. We present a thorough analysis of common CTSK polymorphisms and genetic relatedness among CTSK haplotypes. INTRODUCTION: CTSK is a cysteine protease of the papain family and is thought to play a critical role in osteoclast-mediated bone degradation. Rare, inactivating mutations in CTSK cause pychodysostosis, an autosomal recessive osteochondrodysplasia characterized by osteosclerosis and short stature. However, there have been no studies of common genetic variants in CTSK and their possible association with bone density in the general population. MATERIALS AND METHODS: To identify common single nucleotide polymorphisms (SNPs) and simple tandem repeat (STR) polymorphisms in and around CTSK, we screened all CTSK exons, intron A, all intron-exon boundaries, and the putative CTSK promoter region in 130 random whites using both high-performance liquid chromatography (HPLC) and DNA sequencing. CTSK markers were genotyped in approximately 3000 perimenopausal Scottish women whose hip and spine bone mineral density (BMD) had been measured by DXA. We performed linear regression analysis to identify and adjust for nongenetic predictors of BMD, and adjusted BMD values (regression residuals) were tested for association with individual CTSK markers and haplotypes by ANOVA and the composite haplotype method of Zaykin et al. RESULTS AND CONCLUSIONS: We discovered two intronic SNPs (8% and 9% frequency), but no common exonic SNPs (> 1% frequency), and found that three STRs at the immediate 5' end of the CTSK locus are highly polymorphic. The population frequencies of haplotypes defined by these five polymorphisms were estimated, and a cladogram was derived showing proximity of relationship and likely descent of the 30 most common CTSK haplotypes. Regression analyses revealed that approximately 39% of spine and 19% of hip rate of change in BMD was accounted for by nongenetic factors. For baseline BMD values in premenopausal women, nongenetic predictors explained 11% of the variance at the spine and 13% at the hip. Adjusted BMD values showed no statistically significant association with any of the individual CTSK polymorphisms or CTSK haplotypes.

The polymorphic androgen receptor gene CAG repeat, pituitary-testicular function and andropausal symptoms in ageing men.

The activity of androgen receptor (AR) is modulated by a polymorphic CAG trinucleotide repeat in the AR gene. In the present study, we investigated hormonal changes among ageing men, and whether the number of AR CAG triplets is related to the appearance of these changes, as well as symptoms and diseases associated with ageing. A total of 213 41-70-year-old men donated blood for hormone analyses (LH, testosterone, oestradiol and SHBG) and answered questions concerning diseases and symptoms associated with ageing and/or androgen deficiency. Of these men, 172 donated blood for the measurement of the CAG repeat length of AR. The CAG repeat region of the AR gene was amplified by polymerase chain reaction (PCR) and the products were sized on polyacrylamide gels. The repeat number was analysed as a dichotomized variable divided according to cut-off limits of the lowest (< or =20 repeats) and the highest quartile (> or =23 repeats), and as a continuous variable. The proportion of men with serum LH in the uppermost quartile (>6.0 IU/L) with normal serum testosterone (>9.8 nmol/L, above the lowest 10%) increased significantly with age (p = 0.01). There were fewer men with this hormonal condition among those with CAG repeat number in the uppermost quartile (> or =23 repeats) (p = 0.03). These men also reported less decreased potency (p < 0.05). The repeat number was positively correlated with depression, as expressed by the wish to be dead (r = 0.45; p < 0.0001), depressed mood (r = 0.23; p = 0.003), anxiety (r = 0.15; p < 0.05), deterioration of general well-being (r = 0.22; p = 0.004), as well as decreased beard growth (r = 0.49; p < 0.0001). A hormonal condition where serum testosterone is normal but LH increased is a frequent finding in male ageing. Only certain types of age-related changes in ageing men were associated with the length of the AR gene CAG repeat, suggesting that this parameter may play a role in setting different thresholds for the array of androgen actions in the male.

[Hormone replacement therapy, better aging, molecular genetic diagnostics and the image of the gynaecologist]. / Hormonersatztherapie, besseres Altern, molekulargenetische Diagnostik und das Image des Frauenarztes.

The benefit of hormone replacement therapy (HRT) for the treatment of menopausal symptoms is well accepted. In contrast, the debate about long-term consequences as a result of continued hormone replacement has recently been reactivated by the publication of results from the Women's Health Initiative Study. The concept of an improved identification of a risk profile of an individual patient based on molecular genetic diagnostics, while highly attractive sofar, has no solid scientific foundation. There is no evidence that by designing HRT on the basis of a specific gene profile of a particular patient the incidence of mild side-effects, which are fairly frequent,or of the rare severe complications can be reduced. Innovations in medicine require a convincing benefit-risk evaluation before they become part of routine practice, and a careful attitude of the physician towards new methods in diagnostics and therapy is a fundamental ethical requirement.

Reproductive factors, glutathione S-transferase M1 and T1 genetic polymorphism and breast cancer risk.

We conducted a hospital-based case-control study to evaluate the interactive effect of reproductive factors and glutathione S-transferase (GST) M1 and T1 genetic polymorphisms in individual susceptibility to breast cancer. The study population consisted of 189 incident breast cancer cases and 189 age-matched controls with no known malignant diseases. GSTM1/T1 genotypes were determined by a multiplex polymerase chain reaction (PCR) method, and odds ratios (ORs) and 95% confidence intervals (CIs) were calculated by conditional logistic regression model. The parity factors were grouped as (1) high-risk status defined as nullipara or para with experience of first full-term pregnancy (FFTP) at or over 30 years, and (2) low-risk status defined as para with experience of FFTP under 30 years. A significant multiplicative interaction was observed between GSTM1 and GSTT1 null genotypes and high-risk status of parity factor in all women and in premenopausal women (P < or = 0.01), but not in postmenopausal women (P > 0.05). The interaction between the combined genotypes of GSTM1 and GSTT1 and status of parity factor was also significant in all women and in premenopausal women (P < 0.01). Our findings suggest that genetic polymorphisms GSTM1/T1 could modify estrogen-related breast cancer risk.

Alcohol consumption and age of maternal menopause are associated with menopause onset.

OBJECTIVES: To examine whether a number of nutritional and familial factors were associated with menopausal development. METHODS: A prospective postal survey amongst a random sample of 1227 women aged 47 to 51 who were premenopausal in a cross-sectional survey 2 years previously. Women were classed into three groups; premenopause (regular menstruation); irregular menstruation; postmenopausal (absence of menstrual cycle for at least 6 months). Proportional odds regression was used to identify those factors which were independently predictive of subsequent menopausal development. RESULTS: There was an 80% (n = 983) survey response rate. After exclusion of current HRT users (n = 178); 150 (19%) women were postmenopausal, 277 (34%) had erratic menstruation and 378 (47%) were premenopause. There were significant univariate associations between menopausal status and age (P < 0.001), age of maternal menopause (P = 0.006), alcohol consumption (P = 0.005) and social class (P = 0.03). Maternal age and alcohol consumption were significantly correlated with estradiol levels (r = 0.45, P = 0.02, and r = 0.61, P = 0.02 for maternal age and alcohol consumption, respectively). In proportional odds regression analyses, age, maternal menopausal age, alcohol consumption and smoking were independently associated with menopausal status. CONCLUSIONS: These results suggest that, (1) there is a strong familial association in menopausal age, and (2) moderate consumption of alcohol is associated with delayed menopausal development.