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1.
Acta Biochim Biophys Sin (Shanghai) ; 53(4): 472-480, 2021 Mar 26.
Artigo em Inglês | MEDLINE | ID: mdl-33704367

RESUMO

Asthenoteratospermia is an important cause of male infertility. Here, we report two infertile patients with severe asthenoteratospermia accompanied by new genetic abnormality. Whole-exome sequencing and bioinformatics analysis suggested that compound heterozygous mutations in DNAH8 (MIM:603337) may be responsible for multiple morphological abnormalities of the sperm flagella (MMAF). Immunofluorescence assay showed that DNAH8 protein expression was significantly decreased in the sperm tail of the patients, and electron microscopy exhibited an abnormal flagellum ultrastructure, while clinical pregnancy could be achieved by intracytoplasmic sperm injection. Therefore, the compound heterozygous mutations in the DNAH8 gene may be responsible for MMAF.


Assuntos
Dineínas do Axonema , Infertilidade Masculina , Mutação , Cauda do Espermatozoide , Adulto , Dineínas do Axonema/genética , Dineínas do Axonema/metabolismo , Humanos , Infertilidade Masculina/genética , Infertilidade Masculina/metabolismo , Infertilidade Masculina/patologia , Masculino , Cauda do Espermatozoide/metabolismo , Cauda do Espermatozoide/patologia , Sequenciamento do Exoma
2.
J Biosci ; 43(5): 969-983, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30541957

RESUMO

The study was designed to explore the beneficial effect of Musca domestica larvae extract (MDLE) on a metabolic disorder using a diabetic rat model. Streptozotocin-induced diabetic rats were treated with or without MDLE. Blood glucose, insulin levels, lipid profiles, and oxidative stress markers were measured. The morphological changes in the pancreas and liver were determined, as well as insulin expression. The expression of glucose transporter 4 (GLUT4), phospho-adenosine monophosphate-activated protein kinase (p-AMPK)/total AMPK, superoxide dismutase 1 (SOD1), catalase (CAT), and peroxisome proliferator-activated receptor gamma (PPARγ) were detected. Compared with untreated diabetic rats, MDLEtreated rats had decreased urine volume, food intake, and water intake, along with significantly lower levels of blood glucose, malondialdehyde (MDA), plasma triglycerides, low-density lipoprotein (LDL), and total cholesterol. MDLEtreated rats also had higher levels of SOD activity, high-density lipoprotein (HDL), and insulin. MDLE treatment partially restored the ß-cell population, improved the liver necrosis and islet cell damage, reversed the decreased expression of GLUT4, phospho-AMPK, SOD1, and CAT in the liver, skeletal muscle and pancreatic tissue, and also increased the expression of PPARγ in the liver and adipose tissue in diabetic rats. In conclusion, the obtained results suggest that MDLE could possibly be used pharmacologically as an adjuvant for the treatment of diabetes.


Assuntos
Misturas Complexas/farmacologia , Diabetes Mellitus Experimental/tratamento farmacológico , Moscas Domésticas/química , Hipoglicemiantes/farmacologia , Células Secretoras de Insulina/efeitos dos fármacos , Insulina/sangue , Proteínas Quinases Ativadas por AMP/genética , Proteínas Quinases Ativadas por AMP/metabolismo , Animais , Glicemia/efeitos dos fármacos , Glicemia/metabolismo , Catalase/genética , Catalase/metabolismo , Misturas Complexas/isolamento & purificação , Diabetes Mellitus Experimental/induzido quimicamente , Diabetes Mellitus Experimental/genética , Diabetes Mellitus Experimental/metabolismo , Ingestão de Líquidos/efeitos dos fármacos , Ingestão de Alimentos/efeitos dos fármacos , Regulação da Expressão Gênica , Transportador de Glucose Tipo 4/genética , Transportador de Glucose Tipo 4/metabolismo , Hipoglicemiantes/isolamento & purificação , Células Secretoras de Insulina/metabolismo , Células Secretoras de Insulina/patologia , Larva/química , Lipoproteínas/sangue , Fígado/efeitos dos fármacos , Fígado/metabolismo , Fígado/patologia , Masculino , Malondialdeído/antagonistas & inibidores , Malondialdeído/metabolismo , PPAR gama/genética , PPAR gama/metabolismo , Ratos , Ratos Sprague-Dawley , Estreptozocina , Superóxido Dismutase-1/genética , Superóxido Dismutase-1/metabolismo
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