Essays on Valine

Introduction

Sickle Cell Anemia or Sickle Cell Disease is an inherited blood ailment. Those suffering from Sickle Cell Disease have abnormal S/ sickle hemoglobin in the red blood cells. Hemoglobin is the protein in the blood that aids in carrying oxygen throughout the body. The ailment takes its appellation from the shape of the red blood cells of a person affected by Sickle Cell Disease, which have the shape of a sickle. They are stiff and adhesive rather than a disk like normal cells. The misshapen cells tend to get trapped in the small blood vessels hindering the movement of ...

INTRODUTION

Catechol-O-methyl transferase (COMT) is an enzyme that plays a significant role in the metabolism of dopamine (DA) and amounts to approximately 60% or more of DA breakdown in the frontal cortex . The gene expressing the COMT enzyme could affect cognition and functioning of the brain via its action on dopaminergic function. A polymorphic variation occurs in the coding area of the COMT gene (a Guanine to Adenine replacement), changing the amino acid from valine (Val) to methionine (Met) at the codon position 158 (Val158Met) and consequently influencing the thermal tolerance and stability of the enzyme. Allelic discrepancies in enzyme ...

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 ...