Genetically Inherited Diseases

Affecting 1 in every 18,000 people, Adrenoleukodystrophy (ALD) is a genetic disease that destroys the myelin sheath surrounding a brain neuron. A brain neuron is an essential cell body that is responsible for muscle contractions and ultimately, our ability to move. Adrenoleukodystrophy is a devastating genetic mutation that affects X-chromosomes in both males and females. However, because males only have one X-chromosome, the outcome is catastrophic.

The P1 cross was between four wmf females and nine wild-type males. The F1 progeny consisted of 12 wild-type females, and four triple-mutant males. The P2 cross resulted in 13 females, and 3 males, all with the wild-type phenotype (Table 1). The two parental crosses identify that the mutations are X-link recessive. The triple-mutant females of the P1 cross produce mutant male offspring, but wild-type females. The F1 females would be heterozygous for the mutations, but don’t express the mutations because they still have a wild-type X chromosome. However, the F1 males only have one X chromosome that comes from a mutant mother. The offspring for P1 were crossed again to make and F1 cross. The F1 cross would be X+/Y and X+/X. The F1 cross resulted in 100 F2 progenies over the course of 7 days.

The main question presented and answered in the book is why we continue to carry the genes for harmful inherited diseases instead of weeding them out through evolution. The book looks are few different diseases that affect a large number of people and tie them back to some historical event that because of this disease they were able to survive and live longer than their healthy counterparts. The author described this theory in a simple quote:

A mutation is a change in the structure or amount of DNA in the amino acids sequence produced. A mutation in a gamete will be inherited, whereas a mutation in other body cells will not be passed to offspring. Gene mutation is an alteration in the base sequence of one or two base pairs by addition, deletion or substitution. This occurs at a single gene locus on a chromosome altering the DNA sequence of bases and the amino acid sequence being produced. The resulting protein shape may be significantly altered and then does not function properly.

A genetic disorder is an a disease or condition caused by one or more abnormalities in the genome. Genetic disorders are an inherited medical condition, which are caused by a DNA abnormality. “Noonan Syndrome is a genetic disorder, it prevents normal development in different parts of the body (Mayo, 2016).” There are several different abnormalities caused by Noonan Syndrome that can affect people. Noonan Syndrome is a genetic disorder which a means it can be passed through parents to their children.

Cystic Fibrosis (CF) is the most common and fatal genetic disease currently in the United States, affecting roughly 30,000 Americans each year (National Human Genome Research Institute, 2013). CF is an autosomal inherited disease that adversely affects the mucus and it’s production throughout the entire body. Mucus is normally a slippery substance that lubricates and protects vital organs and body systems including the lining of airways, reproductive system and digestive systems. Patients who are diagnosed with CF actually have mucus that is abnormally sticky and thick, which places them at a high risk for severe pulmonary, digestive, and reproductive problems. Specifically regarding the pulmonary system CF patients often develop clogged airways, leading to bacterial infections and breathing abnormalities such as chronic coughing, wheezing, inflammation and lung damage. As a result of this recurrent and problematic, this places the patient at an increased risk for permanent lung damage and disease. Over time due to recurrent, chronic lung infections the characteristic of the lungs begin to change as more and more scar tissue develop making them fibrotic and develop cysts.

Adrenoleukodystrophy or otherwise know as ALD is a genetic and metabolic disorder in ,which long chains of fatty acids are deposited in the adrenal cortex and the nervous system, since the enzyme that breaks down fatty acids is not produced. The myelin sheath of the nerve cells and brain begins to deteriorate and weaken. The myelin sheath is responsible for protecting and covering the brain and nerve cells. When it becomes damaged neurological damage happens which is irreversible. As is the case of the occipital lobe. Which is located in the back when it becomes damaged it can lead to poor vision or blindness. There's two types of ALD ,but the most common is X-ALD. This means that their is an abnormal gene located on the x- chromosome.

Many people are affected by genetic disorders every day. Abnormalities in one’s DNA are what cause a genetic disorder. These disorders could be as little as a mutation in a single gene. In another case, they could be as severe as having an extra chromosome, or taking away a chromosome.

The reading shows disease and inheritance in an entirely new light. It introduces the idea that genetically inherited diseases may have been selected for, which means that they must provide certain evolutionary advantages. It reorients the reader’s perspective about a disease like hemochromatosis, which has the potential to be incredibly harmful and even deadly, establishing that it may have once provided protection from the bubonic plague, making it an advantageous trait. This brings other genetic diseases into question, examining why diseases that appear to be harmful have not been eliminated from the gene pool. The idea that a disease that is harmful and dangerous in modern times could have once been a beneficial adaptation is very interesting.

It is too simplistic to think of a gene mutation as the cause for a genetic disease. Many genetic diseases are polygenic or multifactorial meaning that genes interact with other genes and environmental factors in order to cause the disorder. Some examples of polygenic or multifactorial diseases are diabetes, asthma, manic depressive disorder, and schizophrenia. In such cases

Genetic disorders can also be hereditary and can be passed down from generation to generation. There are two types of genetic disorders, single gene and multigene. Single gene focuses specifically on one gene while multigene disorders affect multiple genes and there are more of them. Moreover, single gene disorders are far more numerous than generally assumed, and as a group, they are certainly not rare (Ropers, 2010). As stated by Hans-Hilger Roper, single gene disorders are more rare than many might think. The chances of being born with a certain genetic disorder could possibly range from 1 in 500 to 1 in 10 million. While these numbers for a single genetic disorder might not be significantly high, the tens of thousands diseases bundled together adds

Genetic diseases are pathological diseases caused by the absence or alteration of one or several genes in the cells of an organism. Most genetic diseases are caused by the inheritance of an altered or missing gene from either one or both of your parents. Because the altered gene is in every cell in your body, including your stem cells, it is practically impossible to physically alter the gene. The only possible effective way that has been found is gene therapy.

A mutation is a change made to the sequence of a base in the DNA. This change occurs mainly in the chromosomes or nucleotides; however, mutations that occur in a egg or sperm cell are the cause of generic variation. This mutation can be inherited by offspring.

The study of genetics includes not only the study of normal DNA, but also of the mutations within a DNA. A mutation is a slightly distorted gene. These mutations can have an effect on a person, both physically and mentally. Although genetics may seem to be just about the genes, scientists are beginning to see a connection between gender and genetic mutations.

In the human body genes are located on rodlike structures called chromosomes that are found in the nucleus of every cell in the body and each gene is assigned a specific position on a chromosome as genes provide the instructions for making proteins, and proteins determine the structure and function of each cell in the body, it follows that genes are responsible for all the characteristics you inherit from your parents.