Mitochondrial Disease Analysis

Picture a young couple in a waiting room looking through a catalogue together. This catalogue is a little different from what you might expect. In this catalogue, specific traits for babies are being sold to couples to help them create the "perfect baby." This may seem like a bizarre scenario, but it may not be too far off in the future. Designing babies using genetic enhancement is an issue that is gaining more and more attention in the news. This controversial issue, once thought to be only possible in the realm of science-fiction, is causing people to discuss the moral issues surrounding genetic enhancement and germ line engineering. Though genetic research can prove beneficial to learning how to prevent hereditary

With the advancement of genetic technology parents may soon be giving the option of modifying their unborn children.If this happens I’m sure the x-linked disorders will all be a thing of the past. No more passing down bad genes to your children. Mitochondrial manipulation technologies is a controversial topic many countries have banned its use. Some people feel that you should let mother nature run it’s course with making babies while others feel genetically modified babies are a thing of the future.

The genes which encode for the mitochondria’s component proteins are in 2 separate genetic systems in 2 different locations. One of which is the cell nucleus, but the other is inside the organelle itself. There are relatively few genes inside the

In 2001, the Food and Drug Administration has declared mitochondrial replacement as a form of gene therapy (Hayden). When new genetic material is introduced into the gametes (or embryo), it modifies the germline. This genetic modification is not only passed on to the child, but also the subsequent generations (Bredenoord, Pennings, and Wert 670). Techniques such as PNT and MST, makes it possible for children to be born with normal cellular energy production, because healthy donated mtDNA would populate their cells. As a consequence of this intervention, the resulting child’s sperm or egg cells their (‘germline’) would also develop using the donor’s mitochondria (Nuffield Council on Bioethics 57).

Imagine a future where parents never had to worry about their child being sick-- a future where technology allowed parents the ability to make a flawless child. That future is near, but is halted due to people’s fear of Genetically Modified Babies, which is “a biologically radical technique referred to by terms including ‘mitochondrial replacement,’ and ‘nuclear genome transfer,’ [these techniques] would produce modifications in every cell of any resulting children” (Cussin and Darnovsky 16). This procedure takes the fetus’s cells and allows the doctors to manipulate the cells in any matter they want; then, the cells are placed in the women’s egg. Unfortunately, Genetically Modified Babies are “codified as [prohibited] in more than 40 countries and several international treaties” (Cussin and Darnovsky 16). In the United States, the FDA had a full day meeting on the subject matter. On February 2014, they discussed human modification and prohibited it (Cussin, Darnovsky 17). The idea of a “designer baby” may seem preposterous, but technology is making the concept attainable. In the United States, there are laboratories that have the technology to reach such a goal, but are unused due to the FDA’s law; however, if “nuclear genome transfer were allowed, [the laboratories] could be used for any purpose” (Cussin and Darnovsky 17). America should allow gene manipulation in babies because it is inhumane to let innocent babies suffer from diseases and disorders that can be

On May 5, 2001, the world’s first genetically modified children were born. The United States performed an experiment from which, thirty healthy, GM babies were born; which brought up a concern for the ethics involved. The babies were born to mothers who would have been considered infertile otherwise. These children have DNA from three parents, two females and one male. Scientists extracted an egg from the infertile mother, and inserted fertile genes from the other woman before fertilization, in hopes of conceiving. The infertile women from the experiment were found to have defects in the mitochondria of their egg cells which prevented them from conceiving. Using the “healthy” eggs, scientists took fertile mitochondria and placed it into the infertile egg of the mother. Since these children have now inherited the modified genes into their germline, their “new” genes can be passed down to their children as well. Lord Winston, of the Hammersmith Hospital in West London, told BBC that, “Regarding the treatment of the infertile, there is no evidence that this technique is worth doing . . . I am very surprised that it was even carried out at this stage.”

Testing for the Activity of a Mitochondrial Enzyme BIOL: 1411: 0A09 Jordyn Kuehl October 3, 2017 Partners: Lexi Zocher, Steve Coutteau   I. Question & Hypothesis In experiment I and II we attempted to take cell fractions of cauliflower, created through a series of differential centrifugations, and ultimately determine which cell fraction contained the greatest number of mitochondria. The Citric Acid Enzyme succinate dehydrogenase (SDH) is a biochemical marker that allows us to indirectly asses the presence of mitochondria.

It’s no secret that many of us seek perfection. Now, scientists have pioneered a way for us to choose or genetically alter embryos, creating the “perfect” child. In heated ethical debates, bioethicists have argued for and against the practice of eugenics and Procreative Beneficence. Recently, medical professionals in the United Kingdom genetically engineered embryos that were prone to inherit a mitochondria disease. This event triggered differing opinions about the genetic manipulation of diseased genes. David Prentice, a lobbyist against eugenics, made the claim that this practice is followed by many ethical infractions. Others such as Art Caplan, director of the Center for Bioethics at the University of Pennsylvania, think of this process as progressive, creating a future of disease free children (Cox).

Due to the large size of the human nuclear genome, most of the mutations occur in nuclear DNA sequences. In contrast, the mitochondrial genome is small (about 1/200 000 nuclear genome size), so the mutation should occur less frequently. Unlike the nuclear genes, there are thousands of the copies of mitochondrial genes in each human somatic cell. For some cells such as the brain or muscle, very intense oxidative phosphorylation is required, and hence they have larger amounts of mitochondria.

HCM can present at any age and can affect any race and gender. It is inherited in an autosomal dominant Mendelian pattern, variable expressivity, age-related penetrance, and incomplete penetrance. The probability of affected individuals passing the mutation and risk for the disease on to their offspring is 50 percent. However, de novo mutations may also be present in the proband, and lead to sporadic cases of the disease.

In many cases of stem cell research, majority of ethical issues argue that the research and genetic modifications are morally wrong. Pang and Ho (2016) explain that techniques for generating designer babies, such as Mitochondria DNA replacement therapy and genetic engineering, have been used to prevent inheriting genetic defects through the selection of “disease genes” embryos by preimplantation diagnosis (p. 59) . These scientific modifications seem to be the gate way to prevent hereditary diseases being passed to future generations. As “life-saving” as these modifications might seem, they have a number a hidden risk factors. Experimental risk factors may come into consideration if the efficiency of the procedure is not adequately met. Because

HCM encompasses several aetiological factors that contribute to the development of the pathology. Most studies show that more than 55% of HCM cases worldwide are a genetic-specific cause. However, regardless of the genetic mutation being the most prevalent HCM aetiology, there are individuals with clinical diagnosis of HCM where there’s an apparent absence of mutations or without genetic involvements (acquired). (Cirino and Ho, 2014) Although autosomal recessive, X-linked, and mitochondrial trait of inheritance can also occur, the most documented mode of transmission of Familial HCM is via an autosomal dominant Mendelian pattern of inheritance. This means of an affected parent, one copy of the mutated gene in the autosomes in each cell is sufficient

Mammalian mitochondrial DNAs (mtDNA) have two separate origins of replication. The origin of the heavy strand (guanine rich) is located within a region termed the Displacement loop (D-loop) and the light strand (cytosine rich) synthesis originates within a cluster of five tRNA genes nearly opposite of the D-loop.

The origin of mitochondria can be explained by endosymbiotic theory which states that the α-proteobacteria was engulfed by an archaebacterial to become what is presently known as mitochondria. As a part of evolution, the mtDNA has almost lost its genetic identity though it continues to retain a small genome from its ancestors. The rest of the non-mitochondrial origin genome came from the horizontal gene transfer. However, there is a lot of debate over the inheritance patterns of mtDNA. In this article, the author explains the inheritance pattern of mtDNA with experimental proof and its isolation from mammalian cell line free of nuclear DNA contamination. The nuclear DNA contamination is due to the recruitment of nucleus derived tRNAs to the mitochondria causing redundancy in the tRNA forming codons. This will eventually lead to the loss of original functional mtDNA thereby increasing the mutational load in the cell.

If a treatment is implicated before the child is born – germline gene therapy – he or she could lose all trace of that defective gene, and therefore wouldn’t pass the disease on to future generations. In somatic gene therapy, treatment is conducted when the patient is an