1. Protein Related Diseases

2. 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.

3. 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.

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

5. 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.

6. 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.

7. 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.

8. 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.

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

10. 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

11. 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

12. 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

13. 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

14. 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

15. 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