Genetic causes disorders

Genetic variation of pathogenic agents in microorganism-caused disorders can be an additional source of individual drug sensibility. Since this article only focuses on human polymorphisms, we will illustrate this concept with one example. 

Amyotrophic lateral sclerosis (ALS) is a degenerative disorder of motor neurones. In 15-25% of cases, the genetic cause of the disease is a mutation of the enzyme Cu+/Zn2+... 

The University of Utah Genetic Science Learning Center provides information about genetic disorders that explains why some mutations cause disorders but others do not. (Refer to the questions in the far right column.)... 

Although chelation is not helpful for Alzheimer s disease patients, it is the key to treating patients with dementia due to Wilson s disease. Wilson s disease is a genetically inherited disorder that usually strikes before age 30. The disease causes toxic levels of copper to accumulate in the liver, brain, eyes, and kidney. Untreated, Wilson s disease leads to tremors, cirrhosis, depression, psychosis, dementia, and ultimately death. Chelation with penicillamine (Cuprimine) can stop and even reverse the accumulation of copper. 

Fliick CE, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendonca BB, Fu-jieda K, Miller WL (2004) Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet 36 228-230... 

Neurological Disorders. Although there are other disorders that are suspect, but fully connected to genetic causes, (he principal connections already positively made an the muscular dystrophies. 

Predictably, most of the mutations identified involve ion channels, the determinants of neuronal excitability (Mulley et al., 2003). Identification of the genetic causes of seizures has helped in understanding the mechanism of the disorder and in the discovery of new drugs that target these affected genes. 

Genetically induced disorders of bile acid metabolism cause non-obstructive intrahepatic cholestasis. Cholestasis due to primary storage diseases also belongs to this group of disorders, (s. tab. 13.4) see chapter 13)... 

Numerous proteins are produced in the liver. Genetically induced disorders of protein metabolism may cause pro-... 

---