Which of the Following Is A Genetic Disorder Resulting In Debilitating Protein Abnormalities?
There are multiple genetic disorders which can result in debilitating protein abnormalities. These disorders are caused by mutations or other changes to genes that lead to abnormal protein production or processing in the body. Some examples of genetic disorders resulting in debilitating protein abnormalities include defective protein degradation in genetic disorders, protein disorder in the human diseasome, and protein S deficiency.
Defective Protein Degradation in Genetic Disorders
Defective protein degradation in genetic disorders is caused by mutations in the ubiquitin-proteasome system. This disorder is characterized by the accumulation of abnormal proteins which can lead to a range of debilitating physical and mental health problems. It is especially common in degenerative diseases like Alzheimer’s and Parkinson’s diseases.
Protein Disorder in the Human Diseasome
Protein disorder in the human diseasome is caused by an increased number of intrinsically disordered proteins. These proteins are associated with various human diseases such as cancer, cardiovascular disease, and amyloidoses. These diseases cause debilitating physical and mental health issues in those affected.
Protein S Deficiency
Protein S deficiency is a rare genetic disorder of blood coagulation that is caused by a variation in the PROS1 gene. This disorder is characterized by an increased risk of clotting, which can be extremely dangerous for those affected. It can result in blood clots that lead to stroke, heart attack, and even death.
These are just a few examples of genetic disorders resulting in debilitating protein abnormalities. It is important to remember that these disorders can have a wide range of symptoms and can be difficult to diagnose. Therefore, it is important to seek medical advice if you are concerned about any health issues.