Cystic Fibrosis:
Cystic fibrosis is an autosomal recessive disease caused by an allele of the CFTR gene on chromosome 7
The CFTR gene codes for a chloride ion channel protein that transports chloride ions into and out of cells. Chloride is a component of sodium chloride, a common salt found in sweat. Chloride also has important functions in cells; for example, the flow of chloride ions helps control the movement of water in tissues, which is necessary for the production of thin, freely flowing mucus.
Mutations in the CFTR gene disrupt the function of the chloride channels, preventing them from regulating the flow of chloride ions and water across cell membranes. As a result, cells that line the passageways of the lungs, pancreas, and other organs produce mucus that is unusually thick and sticky. This mucus clogs the airways and various ducts, causing the characteristic signs and symptoms of cystic fibrosis
Huntingtons Disease
Humans have two copies of the Huntingtin gene (HTT), which codes for the protein Huntingtin (Htt)
Huntington’s disease is dominantly inherited. Meaning only one bad copy of the gene from either the mother or father will result in Huntington’s disease.
Therefore, children of people affected with the disease have a 50% chance of getting that allele from an affected parent.
If both parents have Huntington’s disease, offspring have a 75% chance of being affected by the disease.
Huntington's disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioral symptoms
In Huntington’s disease, a repetition of a CAG sequence in the gene encoding for the protein Huntingtin makes it clump together in our brain cells, ultimately making the brain cell die.
The exact mechanism of the disease is still being researched; however, this is what is current research suggests.
The repetitive glutamates (CAG) in the Huntington protein change the shape of the brain cells, affecting their function. The glutamate sends signals that constantly over-excite brain cells. Their overexcitement leads to cell damage, and ultimately cell death.