Effect of Malfunctioning of Proteins in the Body

The absence or malfunctioning of one or more proteins in the system can cause serious life-threatening diseases. The malfunctioning of proteins can be traced to some type of structural abnormality due to variations in the chemical composition. For example, the absence of one of the subunit, beta chain of the oxygen-carrier protein hemoglobin of RBC, can cause thalassaemia.

This metabolic error due to abnormal hemoglobin affects many children who can only survive on repeated blood transfusion. Another type of abnormal hemoglobin is where the beta chain is mutated and the glutamic acid at position six is replaced with valine and results in deformed RBC and a condition known as sickle cell anemia.

The absence of an enzyme adenosine-deaminase, an important enzyme in nucleotide metabolism, can cause the disease known as SCID (severe combined immunodeficiency) in children. These children cannot survive infancy. There are some types of infectious protein particles known as 'prions', which can turn normal proteins to rogue proteins or incorrectly shaped proteins and can cause diseases such as mad cow disease. To understand more about the relationship between the disease and the structural abnormality of the protein we should know more about the structure and its relationship with biological activity.


Tags: Bio Technology, Bio Genetics, Proteins

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