Huntington's Disease Case Study

Great Essays
Register to read the introduction… Since the gene is found on the X chromosome, it can only be given to offspring by the mother’s DNA. Sex-linked traits can only be expressed if there is not another X chromosome to counter the mutated gene with its normal gene. This puts males (have X and Y chromosomes) at a huge disadvantage because they do not have another X chromosome like females (have two X chromosomes) do. Males with mothers who are carriers of the mutated gene have a fifty percent chance of inheriting disease because there are two X chromosomes (one has the mutated gene) in which they can be given. This is why sex-linked traits, such as the gene for Huntington’s disease, most often affect males. Although females of mothers with the mutated gene are less likely to be affected by the mutated gene, they can be carriers of the mutated gene and pass it on to their offspring.
Although there is no cure for Huntington’s disease, scientists have made a lot of progress towards finding a cure. In 1983, a scientist named Nancy Wexler and others discovered that the gene for Huntington’s disease was located on the short arm of chromosome 4. Almost a decade later they found that a codon with the nucleotides CAG repeated multiple times in people carrying Huntington’s disease. A normal person who is not carrying the mutated gene has anywhere between 10 and 35 CAG codons. They
…show more content…
This extra copy is created when a pair of chromosome 21 fails to separate during egg formation. The embryo is created with three copies of chromosome 21 (“Down Syndrome” Genetic Science Learning Center, 2006). This extra copy of chromosome 21 may cause more of certain proteins to be produced than normal. Scientists believe that the greater amounts of these proteins could be responsible for the wide range of symptoms that people with Down syndrome experience. About 1 out of every 800 to 1000 babies has Down …show more content…
Although many of the symptoms are similar from one person to another, they are never the same because this disorder is caused by a unique abnormality. Some of the common physical symptoms include a smaller skull, underdeveloped nasal bone at birth, smaller ears, enlarged tongue, shorter and broader neck, and absence of one of the 12 ribs. Typical mental characteristics include troubles with gross motor skills, language, and speech. People with Down syndrome also may experience heart problems, gastrointestinal disorders, orthopedic problems, hearing problems, eye problems, and Alzheimer’s disease (Tingey, 34).
Right now, there are no cures for Down syndrome, but scientists from Stanford University are now finding that gene therapy may be possible within the next ten years. They are currently working on identifying the 235 genes on chromosome 21 and finding out what symptoms each gene causes. Stanford Scientists are thinking that drugs can be developed to “turn off” the third copy of chromosome 21, which would make the body produce a normal amount of each protein and hopefully eliminate the symptoms of Down syndrome (Shari Roan,

Related Documents

  • Improved Essays

    Trisomy 21 Research Paper

    • 1600 Words
    • 7 Pages

    Describe trisomy 21. Trisomy 21 is a genetic disorder commonly known as Down syndrome. It is caused by the presence of all or part of an extra 21st chromosome. IT is the most common chromosomal abnormality associated with intellectual disability. One in 730 live births results in trisomy 21.…

    • 1600 Words
    • 7 Pages
    Improved Essays
  • Improved Essays

    Also, they have a more compromised immune system and are prone to Thyroid Dysfunction. Males with Down Syndrome are also sterile and people diagnosed with Down Syndrome have reduced longevity. Epstein was most famous for his “Gene Dosage Effect Hypothesis”. The Hypothesis basically stated that having extra genes created extra proteins which then result in the manifestation of Down Syndrome.…

    • 954 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    What Is Trisomy 21?

    • 276 Words
    • 2 Pages

    Genetic Disease Project: Trisomy 21 What is Trisomy 21? For starters, Trisomy 21 is another for a genetic disease called Down Syndrome. Genetic Home Reference says “Trisomy 21 is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All individuals affected experience cognitive delays, but the intellectual disability is usually mild to moderate. You get Down Syndrome by having a extra set of chromosomes.…

    • 276 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Huntington’s is an inherited disease that targets the brain’s function. The disorder takes over and kills parts of the brain causing the individual with the disease to lose motor function, memories and the ability to rationalize. The defect occurs in a single gene and because Huntington’s is an autosomal dominates disorder the offspring only needs one copy of the abnormal gene to possibly develop the disease. The Huntington’s mutation occurs in the HTT gene, this gene controls the production of the huntingtin protein.…

    • 391 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    And then that gene gets other genes to get involved into the development. The parents do not pass this disease down but rather the mutation happens in the own girls body. But the mutation that causes this disease occurs randomly. But scientist are still trying to find…

    • 453 Words
    • 2 Pages
    Improved Essays
  • Great Essays

    This occurs when a pair of the twenty first chromosome in the egg or sperm does not properly divide, resulting in the child having three copies of chromosome 21 instead of just two. The extra copy of chromosome 21 is reproduced in every cell of the unborn child’s body. This type of Down Syndrome is more common than any other type. It is the cause behind 95% of all people with Down syndrome (“Facts about Down Syndrome”).…

    • 1829 Words
    • 8 Pages
    Great Essays
  • Superior Essays

    Area of Study 3 – Investigating an Issue • How is Huntington’s Disease inherited and what are the consequences and treatments for this genetic disorder? -------------------------------------------------------------------------------------------------------- Huntington’s Disease is a specific neurological condition that affects the brain and nervous system. This specific disease is inherited by an autosomal dominant pattern meaning a single copy of the altered gene in each cell may cause the disorder. In most cases, the child inherits the altered gene from one parent who is affected but in rare cases, an individual who has the disease man not have with an affected parent.…

    • 1487 Words
    • 6 Pages
    Superior Essays
  • Improved Essays

    Benchmark - Ethical Dilemmas Abortion is personally understood as a female’s choice to terminate a pregnancy. There are ethical dilemmas to be faced when one makes the decision to abort an unborn child. Further understanding of the Christian’s core beliefs, how one can compare both sides and come up with a resolution, and have a full evaluation of what can be gained will help her in making a decision that can impact not only her life… but God’s image that resides within her womb. Ethical Dilemma With years of difficulty, Susan gets pregnant.…

    • 1084 Words
    • 5 Pages
    Improved Essays
  • Great Essays

    Scientists identified this defective gene in 1993. The Huntington’s disease mutation is an expanded triplet repeat — a kind of molecular stutter in the DNA. This abnormal gene codes for an abnormal version of the protein called Huntington. The Huntington protein, whose normal function is still unknown, is widely distributed in the brain and appears to be associated with proteins involved in transcription (turning genes on), protein turnover, and energy production. Scientists suspect that Huntington’s disease is caused by the gain of a new and toxic function among these protein.…

    • 1659 Words
    • 7 Pages
    Great Essays
  • Improved Essays

    There is a majority of people who kill babies because of disability problems. Taking away the lives of humans due to disorders they may have is such a harsh, heartless and unsympathetic action. Everyone should be given the opportunity to live. Babies with Down syndrome are born with an extra chromosome 21, leaving them with mental and physical issues. They may be different from other kids and it occurs in any race.…

    • 521 Words
    • 3 Pages
    Improved Essays
  • Improved Essays

    Huntington’s disease is a dominant gene. Since it is a genetic disease if the parent has it, the child has a 50% chance of getting it. George Huntington was the first to describe the condition. Charles Sabine, Nbc News T journalist, took a genetic test that came back positive. Since then he has been promoting awareness, research, and legislation.…

    • 912 Words
    • 4 Pages
    Improved Essays
  • Improved Essays

    Huntington's disease is caused by a expanding mutation to the DNA code. This disease affects about one out of ten thousand. People with this disease have a fifty to fifty chance of passing it on to their children. The symptoms start from ages thirty to fifty. Six percent of people that carry this disease can get Juvenile Huntington's Disease which affects kids and teenagers.…

    • 346 Words
    • 2 Pages
    Improved Essays
  • Improved Essays

    Huntington’s Disease Huntington’s Disease is a disease that takes place in the brain due to the loss of brain cells, It is uncommon amongst most populations but might even affect you. Huntington’s disease is a genetic defect in the process of making proteins. It is an unusual Mutation that causes the loss of Neurons which are brain cells. It was discovered by an American doctor in the 1872. The disease is described in many names including “Huntington’s Chorea”.…

    • 624 Words
    • 3 Pages
    Improved Essays
  • Superior Essays

    Currently there isn’t any way of determining if the mutation will be passed on, but each child born from a parent who has Huntington’s disease is at risk of inheriting the gene by 50%. A very small percentage (1-3%) of people diagnosed…

    • 1758 Words
    • 8 Pages
    Superior Essays
  • Improved Essays

    New genes are discovered every month showing 200 new inherited traits with two types of testing that can be done. “Screening tests do not diagnose a birth defect; they only determine if a fetus is at high or low risk for a specific condition. Diagnostic tests can diagnose certain fetal conditions with a high degree of accuracy.” (Doeblin). The first type of testing, screening tests, can show cystic fibrosis and modified sequential screening, which is down syndrome, or neural tube.…

    • 1532 Words
    • 7 Pages
    Improved Essays