1. Genetic Changes & Biotechnology
Chapter 7

2. 7A MUTATIONS Man has experienced degeneration
lifespans
Biotechnology –an answer for mutations?
Genetic Engineering, cloning, stem cell technology
Mutations
The change of a single DNA nucleotide
Can involve a whole chromosome or a complete set of chromosomes
Random, can happen any time in genetic material
Many are neutral-producing no noticeable effects
Some are harmful (ex. Albinism)
Lethal mutations- cause death
Gene Mutations
A change to the sequence of bases in the segment of DNA that make up a gene which often results in an incorrect protein being produced
When the cell uses a mutated DNA segment to make mRNA it will contain the wrong code and the proteins produced will be incorrect
Some mutations do not affect the organism at all
Some mutations only have minor effects
Lethal gene mutations are not really noticed

3. 7A MUTATIONS Somatic mutations Germ mutations Chromosomal Changes
Mutations that occur in body cells, these do not affect future generations
Germ mutations
Mutations that occur in gametes or in the cells that make gametes
May not affect the organism but can affect its offspring
If an offspring develops from a mutated gamete then the offspring (all of its cells) will receive the mutated gene
Most mutations are recessive
So if one parent has a normal allele then the normal phenotype is expressed
If both parents carry the recessive mutation then the mutated phenotype will be expressed
Chromosomal Changes
Involves the number of chromosomes or the number or location of genes on a chromosome
Does not directly involve the formation of different proteins, but can cause an organism to have some different traits, these traits can cause disorders or they may cause variations
Changes that involve the arrangement (not number) of genes on a chromosome usually have little effect
If a change results in a different number of chromosomes or different number of genes on a chromosome could have an effect
Chromosomal changes can occur in somatic cells or gametes
Chromosomes occur in sets
Changes that result in an unusual number of chromosomes are called changes in ploidy

4. 7B Genetic Engineering Genetic Engineering Gene therapy
Humans are different from other organisms
Man is not part of the animal kingdom
We have the ability to gain knowledge and direct our lives
We must exercise wise dominion over genetic engineering
We must use human genetic and genetic engineering within biblical guidelines and as responsible stewards

5. 7C CLONING Clones – genetically identical organisms
Asexual reproduction can produce offspring with the exact same traits
Invertebrates: sponges, jellyfish, planarians
Natural human clones – identical twins
Only plants and animals have been artificially cloned
Cloning can be used for good or evil
Reproductive cloning
Therapeutic cloning

6. 7D Stem Cell Technology Stem cell technology
Stem cells – cells that divide almost indefinitely
Differentiation – when a cell becomes specialized
Scientists can make cells differentiate into specific cells
What is the source of stem cells?
Embryonic stem cells
Not as specialized, easier to control differentiation
Have not yet been used to treat any diseases
If used, the embryo dies
Somatic stem cells
Already differentiated cells
Already being used to treat over 70 diseases
None are harmed in using somatic stem cells

7. Von Hippel Lindau Disease
The VHL gene provides instructions for making a protein that functions as part of a complex (a group of proteins that work together) called the VCB-CUL2 complex. This complex targets other proteins to be broken down (degraded) by the cell when they are no longer needed. Protein degradation is a normal process that removes damaged or unnecessary proteins and helps maintain the normal functions of cells.
One of the targets of the VCB-CUL2 complex is a protein called hypoxia-inducible factor 2-alpha (HIF-2α). HIF-2α is one part (subunit) of a larger protein complex called HIF, which plays a critical role in the body's ability to adapt to changing oxygen levels. HIF controls several genes involved in cell division, the formation of new blood vessels, and the production of red blood cells. It is the major regulator of a hormone called erythropoietin, which controls red blood cell production. HIF's function is particularly important when oxygen levels are lower than normal (hypoxia). However, when adequate oxygen is available, the VCB-CUL2 complex keeps HIF from building up inappropriately in cells.
The VHL protein likely plays a role in other cellular functions, including the regulation of other genes and control of cell division. Based on this function, the VHL protein is classified as a tumor suppressor, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. The VHL protein is also involved in the formation of the extracellular matrix, which is an intricate lattice that forms in the spaces between cells and provides structural support to tissues.
More than 370 inherited mutations in the VHL gene have been identified in people with von Hippel-Lindau syndrome, a disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. VHL gene mutations associated with this condition either prevent the production of any VHL protein or lead to the production of an abnormal version of the protein.
When the VHL protein is altered or missing, the VCB-CUL2 complex cannot target HIF- 2α and other proteins to be broken down. As a result, HIF can build up in cells. Excess HIF stimulates cells to divide abnormally and triggers the production of blood vessels when they are not needed. Rapid and uncontrolled cell division, along with the abnormal formation of new blood vessels, can lead to the development of cysts and tumors in people with von Hippel-Lindau syndrome.
Von Hippel-Lindau syndrome is an inherited disorder characterized by the formation of tumors and fluid-filled sacs (cysts) in many different parts of the body. Tumors may be either noncancerous or cancerous and most frequently appear during young adulthood; however, the signs and symptoms of von Hippel-Lindau syndrome can occur throughout life.
Tumors called hemangioblastomas are characteristic of von Hippel-Lindau syndrome. These growths are made of newly formed blood vessels. Although they are typically noncancerous, they can cause serious or life-threatening complications. Hemangioblastomas that develop in the brain and spinal cord can cause headaches, vomiting, weakness, and a loss of muscle coordination (ataxia). Hemangioblastomas can also occur in the light-sensitive tissue that lines the back of the eye (the retina). These tumors, which are also called retinal angiomas, may cause vision loss.
People with von Hippel-Lindau syndrome commonly develop cysts in the kidneys, pancreas, and genital tract. They are also at an increased risk of developing a type of kidney cancer called clear cell renal cell carcinoma and a type of pancreatic cancer called a pancreatic neuroendocrine tumor.
Von Hippel-Lindau syndrome is associated with a type of tumor called a pheochromocytoma, which most commonly occurs in the adrenal glands (small hormone-producing glands located on top of each kidney). Pheochromocytomas are usually noncancerous. They may cause no symptoms, but in some cases they are associated with headaches, panic attacks, excess sweating, or dangerously high blood pressure that may not respond to medication. Pheochromocytomas are particularly dangerous if they develop during pregnancy.
About 10 percent of people with von Hippel-Lindau syndrome develop endolymphatic sac tumors, which are noncancerous tumors in the inner ear. These growths can cause hearing loss in one or both ears, as well as ringing in the ears (tinnitus) and problems with balance. Without treatment, these tumors can cause sudden profound deafness.
From Left to Right: Michael, my son, Jake, Nikki, my friend, and Aly, my daughter