RESUMEN
OBJECTIVES: To report a woman with primary ovarian insufficiency (POI) with reciprocal translocation between chromosomes 5 and 13. METHODS: Chromosomal analysis (G-banding) of a 39-year-old woman with elevated gonadotropin levels and secondary amenorrhea and review of the literature with a special focus on disrupted genes at the reported breakpoints. RESULTS: A reciprocal translocation between the long arms of chromosomes 5 and 13 was identified in the patient (46,XX,t(5;13)(q13;q14)). Investigation of the breakpoints revealed that the 13q14.1 region encompasses FOXO1 (forkhead box 1) gene, which has an important role in granulosa cell function and follicle maturation. CONCLUSIONS: Autosomal translocations are rare in women with POI. We have reported the first case of a de novo reciprocal translocation involving chromosomes 5 and 13 in a POI patient. As one of the breakpoints encompasses the FOXO1 gene, it seems that disruption of this gene can be the cause of POI in this patient. This provides further evidence on the role of autosomal translocations in disrupting POI-associated genes. Therefore, concentrating on the genes at the breakpoints will be helpful to delineate the new biological pathways or genes involved in POI pathogenesis.
Asunto(s)
Insuficiencia Ovárica Primaria/genética , Translocación Genética/genética , Adulto , Puntos de Rotura del Cromosoma , Cromosomas Humanos , Cromosomas Humanos 13-15/genética , Cromosomas Humanos 4-5/genética , Femenino , Proteína Forkhead Box O1/genética , Células de la Granulosa/fisiología , Humanos , LinajeRESUMEN
The relative expression of renin, angiotensin converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R) was performed using quantitative real-time PCR on tissue from the heart ventricles to investigate the effect of 3,5,3'-l-triiodothyronine (T3)-induced pulmonary hypertension syndrome (PHS) in broiler chickens at 12 and 42 d of age. Plasma angiotensin II was also measured using enzyme immunoassay at 12, 21, 28, 32 and 42 d. Renin transcript in the right ventricle of the treated group was significantly increased at 12 d and decreased at 42 d of age compared to controls. ACE transcript in the left ventricle of the treated group was significantly increased at 42 d of age compared to controls. In the right ventricle, the expression of this gene was significantly increased at 12 d while decreased at 42 d of age in the treated group compared to control. AT1R transcript in the right ventricle of the treated group was significantly increased at 12 and 42 d of age compared to control. In the left ventricle of the treated group, the transcript of this gene was only higher at 12 d of age than control. Plasma angiotensin II was significantly increased in pulmonary hypertensive chickens at 28 d of age compared to control. It is concluded that gene expression of renin, ACE and AT1R was relatively upregulated in the heart of chickens developing pulmonary hypertension. The right ventricle of hearts from pulmonary hypertensive chickens showed considerable reductions of renin/ACE and elevation of AT1R which may provide evidence of diminished responsiveness of the renin-angiotensin system.
Asunto(s)
Angiotensina II/sangre , Pollos , Regulación de la Expresión Génica , Hipertensión Pulmonar/veterinaria , Enfermedades de las Aves de Corral/genética , Receptor de Angiotensina Tipo 1/genética , Sistema Renina-Angiotensina/genética , Animales , Proteínas Aviares/genética , Proteínas Aviares/metabolismo , Ensayo de Inmunoadsorción Enzimática/veterinaria , Ventrículos Cardíacos/metabolismo , Hipertensión Pulmonar/genética , Masculino , Peptidil-Dipeptidasa A/genética , Peptidil-Dipeptidasa A/metabolismo , Reacción en Cadena en Tiempo Real de la Polimerasa/veterinaria , Receptor de Angiotensina Tipo 1/metabolismo , Renina/genética , Renina/metabolismo , Triyodotironina/efectos adversosRESUMEN
Hippocampus, amygdala and dorsal raphe nucleus are the cerebral main structures involved in learning, memory and anxiety. Ghrelin increases the level of several hormones in these structures and affects learning, memory and anxiety-like behaviors. This study was performed to investigate the effect of ghrelin agonist on passive avoidance learning and anxiety in adult female rats in the presence and absence of ovary hormones. Five groups of rats, including control group with no injections, ovariectomized groups; one group receiving normal saline and other group receiving ghrelin agonist solution, surgery shocked (sham operated) groups; one group receiving saline and other group ghrelin agonist solution, were tested. Inside stereotaxis apparatus, two sided CA1 cannulae were used and 1 microL of saline or ghrelin agonist solution, at 3 nmol microL(-1) concentration, was injected into each cannula. Passive avoidance learning was measured by using shuttle box and anxiety by elevated plus- maze. Ghrelin agonist increased the level of learning in surgery shocked group in comparison with control group. Anxiety-like behavior was seen in both ovariectomized and surgery shocked groups. Ghrelin agonist binds its own receptors in the hippocampus, thereby increases learning capability and induces anxiety-like behaviors. Proper management of these behaviors might be useful in controlling some forms of nervous system diseases in humans.