Protein Related Diseases

A List of Protein Deficiency Diseases According to the Centers for Disease Control, proteins are substances that are part of cells, tissues and organs throughout the body. Deficiency mainly occur in developing countries In those who live in impoverished communities in developed countries and in the elderly who lack access to nutritious food Protein deficiency also affects people who are born with a genetic disorder to produce certain proteins, and people with diseases that cause them to lose appetite and experience muscle breakdown.

Marasmus Marasmus is a disease caused by a severe deficiency of protein and calories that affect infants and very young children, often resulting in weight loss and dehydration. Marasmus can develop into starvation and cause fatality caused by a lack of essential nutrients. People with marasmus appear bony with little muscle tissue.

The word “marasmus” comes from the Greek marasmos ("decay") Marasmus is caused by a severe deficiency of nearly all nutrients, especially protein and carbohydrates.

Treatment: Necessary to treat not only the causes but also the complications of the disorder, including infections, dehydration, and circulation disorders, which are frequently lethal and lead to high mortality if ignored. Ultimately, marasmus can progress to the point of no return when the body's ability for protein synthesis is lost. At this point, attempts to correct the disorder by giving food or protein are futile.

Kwashiorkor Kwashiorkor is a disease caused by a severe deficiency of protein in diets that contain calories mostly from carbohydrates such as yams, rice and bananas. It usually affects older children. People with kwashiorkor appear puffy in the abdomen area from retention of fluid. Common symptoms of both marasmus and kwashiorkor include fatigue, irritability, diarrhea, stunted growth and impairment of cognition and mental health.

Kwashiorkor is an acute form of childhood protein-energy malnutrition characterized by edema, irritability, anorexia, ulcerating dermatoses, and an enlarged liver with fatty infiltrates. Sufficient calorie intake, but with insufficient protein consumption, distinguishes it from marasmus. Kwashiorkor cases occur in areas of famine or poor food supply. Cases in the developed world are rare.

Proteopathy Proteopathy (Proteo- protein; pathy disease;) refers to a class of diseases in which certain proteins become structurally abnormal, and thereby disrupt the function of cells, tissues and organs of the body. Often the proteins fail to fold into their normal configuration; in this misfolded state, the proteins can become toxic in some way (a gain of toxic function) or they can lose their normal function.

Diseases caused by abnormal proteins Alzheimer's disease, Parkinson's disease, Prion disease, Type 2 diabetes, Amyloidosis Huntington's diseases Transmissible spongiform encephalopathies (TSE).

Pathophysiology a change in 3-dimensional folding (conformation) increases the tendency of a specific protein to bind to itself. In this aggregated form, the protein is resistant to clearance and can interfere with the normal capacity of the affected organs misfolding of the protein results in a loss of its usual function For example, cystic fibrosis is caused by a defective cystic fibrosis transmembrane conductance regulator (CFTR) protein. These gene-regulating proteins inappropriately aggregate in the cytoplasm, and thus are unable to perform their normal tasks within the nucleus

proteins that are relatively unstable as monomers (that is, as single, unbound protein molecules) are more likely to misfold into an abnormal conformation The likelihood that proteopathy will develop is increased by certain risk factors that promote the self-assembly of a protein. These include destabilizing changes in the primary amino acid sequence of the protein, post-translational modifications (such as hyperphosphorylation), changes in temperature or pH, an increase in production of a protein, or a decrease in its clearance

Advancing age is a strong risk factor, as is traumatic brain injury Occurs due to deposition of protein aggregates called amyloid fibrils or plaques. Normally soluble protein converted to insoluble fibrils rich in beta sheets

Some diseases and proteins responsible for them Proteopathy Major aggregating protein Alzheimer's disease Amyloid β peptide Parkinson's disease α-Synuclein Huntington's disease and other triplet repeat disorders (multiple) Proteins with tandem glutamine expansions Type II diabetes Islet amyloid polypeptide (IAPP; amylin) Retinitis pigmentosa with rhodopsin mutations rhodopsin Sickle cell disease Hemoglobin

Sickle Cell anemia is a molecular disease of hemoglobin 500 genetic variants of hemoglobin Few are rare Most variants consist of differences in a single amino acid residue Genetic disease Sickle cell hemoglobin – each parents Erythrocytes are fewer and abnormal Long , thin , crescent shaped erythrocyte- looks like blade of sickle Hemoglobin from sickle cells (hemoglobin S) is deoxygenated- becomes insoluble – forms polymer- aggregates

A single AA substitution A Val instead of Glu residue at position 6 in two β chains Weak, dizzy, short of breath, heart murmur and increased pulse rate Sickle cell are fragile and ruptured easily Half of normal hemoglobin- anemia