Here is a syndrome that can be caused by the mutation in the genes. It causes the person to walk on all four. The syndrome is known as Uner Tan Syndrome
Uner Tan syndrome is a somewhat controversial condition, whose most obvious property is that people who suffer from it walk on all fours. UTS is a syndrome that was proposed by the Turkish evolutionary biologist Üner Tan after studying five members of the Ulaş family in rural Turkey. These individuals walk with a quadrupedal locomotion, use primitive speech, and have a congenital brain impairment (including “disturbed conscious experience”). The family was featured in a 2006 BBC2 documentary called, "The Family That Walks On All Fours." Tan describes it like this:
The genetic nature of this syndrome suggests a backward stage in human evolution, which is most probably caused by a genetic mutation, rendering, in turn, the transition from quadrupedality to bipedality. This would then be consistent with theories of punctuated evolution.
Did you know that mutations can possible boost one's immunity towards cancer?
Despite significant advances in cancer research, the disease continues to exact a devastating toll. Because cancer is a disease of the body's own cells, which mutate and develop under evolutionary pressure, the usual treatments like chemotherapy and radiation often leave behind a residue of resistant cells that go on to expand and wreak havoc on the body. In a new study, researchers have found that there is a method for pinpointing tumor-specific factors in blood that can elicit a protective immune response in the body and may one day be harnessed to produce an effective vaccine against the disease. It is able to rapidly identify peptides produced by tumor-associated mutations, then screening these peptides to find those exhibiting a strong immune response. This study was conducted on mice and it was confirmed that some of the peptides exhibiting a strong antibody response on the peptide arrays offered protection from cancer in mice, while non-immunogenic peptides did not.
This research gives us possibilities to the development of potent new weapons against cancer, giving the advantage to the body's own immune defenses to stop this leading killer in its tracks!
Mutations happen for several reasons, but mostly they happen when DNA fails to copy accurately. For example, when a cell divides, it makes a copy of its DNA and sometimes the copy is not quite perfect. That small difference from the original DNA sequence is a mutation. External environment and influences can also cause mutations because exposure to specific chemicals and radiation can cause the DNA to break down.
FDA has approved a new cancer drug that is the first to be designed from the start to fight a specific genetic mutation, not a traditional cancer type. It is designed and approved to treat cancers that arise anywhere in the body that carry a certain genetic characteristic. Normally, patients are treated based on where the cancer came from, but this technique is unique because it works regardless of where the cancer came from as long as it has the specific mutation. It treats a genetic mutation involving genes called NTRK genes.
Cancer is a genetic disease—that is, cancer is caused by certain changes to genes that control the way our cells function, especially how they grow and divide.
Genes carry the instructions to make proteins, which do much of the work in our cells. Certain gene changes can cause cells to evade normal growth controls and become cancer. For example, some cancer-causing gene changes increase production of a protein that makes cells grow. Others result in the production of a misshapen, and therefore nonfunctional, form of a protein that normally repairs cellular damage.
Genetic changes that promote cancer can be inherited from our parents if the changes are present in germ cells, which are the reproductive cells of the body (eggs and sperm). Such changes, called germline changes, are found in every cell of the offspring.
Cancer-causing genetic changes can also be acquired during one’s lifetime, as the result of errors that occur as cells divide or from exposure to carcinogenic substances that damage DNA, such as certain chemicals in tobacco smoke, and radiation, such as ultraviolet rays from the sun. Genetic changes that occur after conception are called somatic (or acquired) changes.
There are many different kinds of DNA changes. Some changes affect just one unit of DNA, called a nucleotide. One nucleotide may be replaced by another, or it may be missing entirely. Other changes involve larger stretches of DNA and may include rearrangements, deletions, or duplications of long stretches of DNA.
Sometimes the changes are not in the actual sequence of DNA. For example, the addition or removal of chemical marks, called epigenetic modifications, on DNA can influence whether the gene is “expressed”—that is, whether and how much messenger RNA is produced. (Messenger RNA in turn is translated to produce the proteins encoded by the DNA.)
Investigators found three adults who did not have cystic fibrosis, despite having mutations on both copies of the CFTR gene, which normally causes the condition. The researchers said they don't know for sure exactly why these people failed to develop the diseases that they seemed genetically destined for. One possibility is that these individuals also have other genes that somehow suppress these disease-causing mutations. These unique cases would help in finding out ways to treat these diseases in the future.
The FDA has approved a new cancer drug that is the first to be designed from the start to fight a specific genetic mutation, not a traditional cancer type.The new drug, named Vitrakvi, is not approved to fight breast cancer or lung cancer or colon cancer. Instead, it’s designed and approved to treat cancers that arise anywhere in the body that carry a certain genetic characteristic. What makes Vitrakvi unique is that it works regardless of where the cancer came from as long as it has the specific mutation.
An example of a biotechnology is Human Gene Therapy – the insertion of genes into a person’s cells to treat a genetic disease. Diseases include cystic fibrosis, haemophilia, muscular dystrophy, sickle cell anemia, or diabetes. In most cases, a “normal” gene is inserted to replace an “abnormal” disease causing gene in the genome. If a gene is inserted directly into the cell, it does not usually function, so a carrier known as a vector is genetically engineered to deliver the gene. The vector can be injected into a specific location in the body or a sample of the patients’ cells can be removed and exposed to the vector in a lab. This process is a promising treatment option however the technique remains risky. Scientists are working toward finding a more effective way to “deliver genes and target them to particular cells.”
New biotechnology has been developed in relation to CRISPR. Previous CRISPR tools limit gene-editing to short snippets of DNA within one single gene. Extracting the DNA from the cell could allow for more edits at one time.
The new CRISPR tool relies on an enzyme known as Cpf1, rather than Cas9, the enzyme typically paired with the CRISPR system to cut up DNA. Discoveries of new CRISPR enzymes have helped to create a litany of new potential uses for the technology. For example, while Cas9 results in blunt ends when it slices through DNA, Cpf1 creates sticky ends that make it better suited for the removing larger chunks of genetic code.
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