RESUMEN
A 15-day-old boy was admitted to the hospital due to repeated convulsions for 14 days. The main clinical manifestations were uncontrolled seizures, hypoergia, feeding difficulties, limb hypotonia, and bilateral hearing impairment. Clinical neurophysiology showed reduced brainstem auditory evoked potential on both sides and burst-suppression pattern on electroencephalogram. Measurement of very-long-chain fatty acids in serum showed that C26:0 was significantly increased. Genetic testing showed a pathogenic compound heterozygous mutation, c.101C>T(p.Ala34Val) and c.1448_1460del(p.Ala483Aspfs*37), in the
Asunto(s)
Humanos , Recién Nacido , Masculino , Pruebas Genéticas , Hipotonía Muscular , Mutación , Proteína-2 Multifuncional Peroxisomal/genética , Deficiencia de Proteína/genéticaRESUMEN
<p><b>OBJECTIVE</b>To investigate the alteration of the gene HSD17B4 in esophageal squamous cell carcinoma and its potential significance.</p><p><b>METHODS</b>The mRNA expression and loss of heterozygosity (LOH) of HSD17B4 in 40 primary esophageal tumors were detected by reverse transcriptase-polymerase chain reaction (RT-PCR) and microsatellite analysis with the intragenic marker D5S1384 of the gene.</p><p><b>RESULTS</b>The frequencies of allelic loss of D5S1384 and the rate of down-regulation of gene HSD17B4 were 46.2% and 62.5%, respectively.</p><p><b>CONCLUSION</b>HSD17B4 may be a candidate tumor suppressor gene associated with esophageal squamous cell carcinoma.</p>
Asunto(s)
Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , 17-Hidroxiesteroide Deshidrogenasas , Genética , Carcinoma de Células Escamosas , Genética , Regulación hacia Abajo , Enoil-CoA Hidratasa , Genética , Neoplasias Esofágicas , Genética , Expresión Génica , Regulación Neoplásica de la Expresión Génica , Genética , Genes Supresores de Tumor , Hidroliasas , Pérdida de Heterocigocidad , Repeticiones de Microsatélite , Complejos Multienzimáticos , Genética , Proteína-2 Multifuncional Peroxisomal , ARN Mensajero , Genética , Reacción en Cadena de la Polimerasa de Transcriptasa InversaRESUMEN
<p><b>OBJECTIVE</b>To determine the physiological role of D-bifunctional protein (DBP) in bile acid biosynthesis through investigating the effect of increasing activity of DBP on bile acid biosynthesis.</p><p><b>METHODS</b>Twenty male Wistar rats were divided into two groups: diethylhexyl phthalate (DEHP) group (n = 10) and control group (n = 10). Serum triglyceride, total cholesterol, hepatic DBP activity, and fecal bile acids were assayed. The mRNA levels of hepatic peroxisome proliferator-activated receptor alpha (PPARalpha), DBP, and cholesterol 7alpha-hydroxylase (CYP7A1) were detected by RT-PCR.</p><p><b>RESULTS</b>Compared with control group, serum triglyceride level was decreased significantly and PPARalphamRNA level was increased significantly in DEHP group (P < 0.01). Together with a sharp induction of DBP mRNA expression and DBP activity in DEHP group (P < 0.01), the levels of CYP7A1 mRNA and fecal bile acids were significantly increased by 1.9 times and 1.6 times respectively compared to control group (P < 0.01). There was a significantly positive correlation between DBP mRNA level or DBP activity and CYP7A1 mRNA level (r = 0.89, P < 0.01; r = 0.95, P < 0.01).</p><p><b>CONCLUSION</b>The up-regulation of DBP mRNA and activity in liver can result in the increase in CYP7A1 mRNA expression and bile acid biosynthesis, suggesting that DBP may be involved in bile acid biosynthesis together with CYP7A1.</p>