Genetically Inherited Diseases.

Three Examples and One

Cure

Three genetically inherited diseases that are well known are the Y sex chromosome carried Tay Sachs
Syndrome. This disease as with the next two are the scourges of mankind. Tay Sachs leads to a
genetically formed disease similar to schizophrenia,but since the carrier has one extra Y chromosome (or
male chromosome) extra is so deforming,there has been no known cure.

Another genetically inherited disease is x-linked. It is carried along with the X chromosome and is only
transparent when the X chromosome is transparent and expressing itself. Such a disease is Hemophilia
which is carried by the females of our race. It rarely expresses itself, but the consequences are
devastating. Severe bleeding occurs. The children of hemophiliacs that show the gene are usually
treated nowadays with blood clotting factor which is extremely expensive.

Finally schizophrenia can be a inherited genetic disease which was thought for years to be
environmentally or socially produced.After the l950’s it was found to have three recessive genes deep in
the chromosome which are rarely expressed unless that are dominant. This is due to probability or
environmental damages.

After the genes are expressed in any of these major diseases ,how is the biochemical mechanism that
produces offending proteins or causations working? In all the diseases the genes that are the origin of
the disease are transcribed by Ribosomal RNA near the center of the nucleus and then the codes or
codons from each DNA is translated into amino acid chains or counterparts the build the blocks that
create the problem.

These offending proteins for each disease cited are for Tay Sachs Syndrome the same proteins that
effect Dopamine in the brain or the regulation of emotions. Experiments with patients with Tay Sachs
and with Schizophrenia using electro-shock therapy have produced palliative effects which sometimes
can cure both diseases or at least control the symptoms.

The other dise3ase (with the recessive allele) has a gene that lowers the amount of red blood cells in
the body. Recently using the clotting factor (or the centrifuged fraction of blood that keeps the blood
clotting)has helped alieve thousands of sufferers from enormous pain and early death.

The molecular mechanisms discussed are the early findings for all three diseases. They are the first
great breakthroughs which occurred after the discovery of DNA in the 1950’s. Since then much research
has advanced our learning about these diseases. With the advent of biotechnology and the use of stem
cells,researchers have developed new families of tranquilizers that better control behavior disorders.
One example is resrpidiol. Derived from the chemical reserpine which can be extracted from Snake
root, this formerly expensive drug is known to erase the psychotic reactions from cocaine abuse.

Hemophilia has had a much more difficult history. Although hours of research are spent finding a
compliment for blood clotting factor,the factor itself is a complicated protein that is not easily
synthesized even when using stem cells. Further research is required on the metabolic pathway leading
to the loss of blood clotting factor in victims of this disease. There are many studies now studying the
family trees of hemopheliacs. By finding the carriers of the recessive gene, medical researchers can
reach back into the family genome and see possibly other genes responsible.
 New discoveries in genetics such as the existence of epigenes (or fragmented derivatives of
combination events). These have also been termed jumping genes in the literature, but care should be
given labeling the phenomenon other than its ability to bring on phenotype expression. As a surface
fragment. or loose allele after genes combine during meiosis, theses epigenes can add different outward
characteristics such as coloration, hair type or body length as a series of traits normally not seen always
together in every generation. Some cures to diseases attributed to epigene research include drugs that
stop the spread of Autoimmune Deficiency Disease from mother to offspring.Others include actual
proposals to cure Hemophilia although research is so controversial that it can’t be relied on yet.

As science progresses and our understanding of how genetically inherited diseases are expressed in
our population, the pace of scientific research races on and reveals answers to the very complicated
molecular mechanisms, the genetic inheritance and Punnet Square discoveries or the focusing inn on
more refined choices to cure symptoms.

Medicine is said to be an art and a science. These three diseases and the history of the research that
has led us to prevent for find cures for them involves three major branches of medicine. The study of
biochemistry, the study of symptomology and diagnosis and finally the study of cellular development.

To try to diagnose and then chart the presence of individual patients and finally cure a disease through
research in developmental biology is a great task. What would any person contribute to these
endeavors? There are ways they can. On internet there is a site where random numbers and quizzes
form puzzles that people can join and work on for free. Believe it or not the outcomes of puzzle results
have led to breakthroughs in understanding the very difficult probability work needed to understand
genetically inherited diseases. Another disease like Hemophilia includes Muscular Dystrophy where
years of work and fundraising sponsored by the Jerry Lewis Foundation have yet to this day found any
real cure. Another disease Multiple Sclerosis did recently get set back by the discovery of a protein the
helps rebuild Myelin sheaths or the coverings of nerve cells that Multiple Sclerosis strips leading to long-
term paralysis and death. Researchers in a race for time have slowed down the time for the disease to
do damage.

New ways of treating cancer have focused on the immune system. By bolstering or using stem cell
therapy to increase numbers of white blood cells,cancerous cells in different types of cancer have
retreated leading to years of life for patients. In this case the development of the cell, its behavior and
chemical make-up during meiosis have been the major researching tools. With Muscular Dystrophy the
Jerry Lewis Foundation announced that certain breakthroughs in epigenetics are bringing big changes to
how that disease will continue.The research in Multiple Sclerosis had used cellular development and the
in vitro isolation of the myelin helping protein.This type of research can go back to a molecule by
molecule understanding of the biochemistry of gene transcription and translation and all known
proteins near the site of the ribosome where it occurs.

Thus science end there with the symptomology, genetics and then development of cells to discover
cures or aids to end diseases? No. The finding of brand new species of plants, or even aquatic or animal
that hold origins of hormones or proteins that end diseases is really taking off. A new drug that combats
Malaria has been used already in Africa. Although it is found not the perfect analogue to end the
parasite’s imprint to our genome,it was genetically engineered. The actual drug used for generations
(bark of the Quinine Tree) is capable of ending Malaria if caught early. But Quinine trees are scarce now.
The study of LSD which is derived from a wheat fungus, led to the understanding of the genetics behind
schizophrenia. The wheat fungus is less common.Now other rusts and funguses plaque our wheat. So
medicine and science are combining resources to preserve what is left of our resources and produce
synthetic drugs that can replace natural remedies.

Medicine and science have been racing with time itself. First the discovery of the diseases themselves
took many years. Finally the compassion to begin a search for a cure took a century from the 1800’s
until the 1900’s. Finally cures are found or not,but the development of synthetics and the use of stem
cell therapy have become essential. Next in line,if there were a cure to Hemophilia,what type of protein
could be synthetically built to answer the use of something different than blood-clottinng factors.

The study of the shape of proteins is very new. With the use of the computer scientists have
replicated the shape, chirality and symmetry of very twisted and convoluted molecular structures called
simple proteins. By using computer screens and modeling, they can predict how they react to different
substrates. Also how the protein combines to the cell (this case a blood cell).What chemicals, their pH
and final product becomes with what results. Thiws type of computer modeling is very new and has
only been successful with very simple proteins, but has the sophistication of our machines becomes
better,they will handle more complex ones such as blood clotting factor. In that way,even this author
someday will be able to have a crack at one of the most devastating diseases plaguing
mankind,Hemophilia.