Essays on Leucine

Transcriptional regulation of gene expression

Gene expression in eukaryotic cells is regulated at transcriptional, post transcriptional and translational levels (Tomizawa,  Lekstrom-Himes, and Xanthopoulos 17). Transcriptional control is the primary means of regulating gene expression. Eukaryotic transcriptional control functions at three levels: modulation of the activities of activators and repressors; variations in chromatin structure; and effect of activators and repressors on assembly of initiation complexes (Lodish et al. 368). Regulation of transcription initiation is the most widespread form of gene control in eukaryotes. However, in some cases, transcription may be attenuated and regulated at subsequent steps, such as during or after the transcription process (Cooper ...

Abstract

In the following case-study, Joshua is a newborn infant presented by his parents Samuel and Rachel to the pediatric outpatient unit of Robertsbridge, Sussex for screening and medical advice for sporadic vomiting at the time of breast feeding and seizure-like episodes. Samuel and Racheal also report sweet odor in the urine and loss of weight. Blood tests demonstrated increased concentrations of leucine and isoleucine. Genetic testing on the skin biopsies reveal mutation at Exon 6, c.659C>T of the of BCKDHA gene with a protein level p. A220V and Joshua exhibits about 1.5 % lesser than normal deficiency in the ...