Huntigton’s disease is a neurodegenerative genetic disorder that affects muscle coordination and leads to mental decline and behavioural symptoms. The earliest symptoms normally show with problems of mood or intellect. People suffering from Huntington’s disease will also have a general lack of coordination and an unsteady gait. In the following stages of the disease uncoordinated body movements become more obvious and there is also a decline in mental abilities and behavioural symptoms. As the disease continues physical coordination and mental abilities worsen. Mental abilities can decline into dementia. Dementia is a broad category of brain diseases, which gradually decrease the ability to think and remember. There are many complications associated with this disease. The person suffering from it can develop pneumonia (an inflammation of lungs most often caused by infections with bacteria, viruses or other organisms and it can lead to a collapsed lung), heart disease and physical injury. Due to this the life expectancy of the sufferer is around 20 years from the point where symptoms started.
Huntington’s disease is a genetic disease. All humans have 2 copies of the Huntingtin gene, which codes for the protein Huntingtin. Part of this gene is a repeated section, which varies in length between individuals and may change length between generations. When length of this repeated section reaches a certain point, it produces an altered protein called mutant Huntingtin protein. The Huntington’s disease mutation is genetically dominant and almost fully penetrant (carriers of mutation are very likely to develop disease). It is not sex linked however its severity can be influenced by sex of the affected parent. Each offspring of an affected individual haws a 50% risk of inheriting the mutant allele and therefore have the disease.
There is no treatment available that altar the course of Huntington’s disease however there are medications with lessen the symptoms. To lessen the movement disorders drugs like Tetrabenazine is used, which supresses the involuntary mobilizing drugs treatments. To treat the psychological effects Antidepressants, antipsychotic and mood-stabilizing drugs are used. Often are also therapies recommended, such as Psychotherapy, Speech therapy, Physical therapy and occupational therapy. Predictive genetic testing is often used for people at risk f developing this disease. For this a blood test is taken and then the numbers of CAG repeats are counted in each HTT alleles. Embryos produced using in vitro fertilization can also be genetically tested for Huntington’s disease.
Pedigree chart;
Cystic fibrosis is a genetic disorder that mostly affects the lung but also the pancreas, liver, kidney and intestine. It can cause frequent lung infections and due to this long term issues such as difficulty breathing and coughing up sputum can develop. Other symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes and infertility in male. Other signs of cystic fibrosis is salty tasting skin, poor weight gain despite normal food intake and accumulation of thick, sticky mucus.
It is an autosome recessive disorder. This means that it isn’t sex linked that the mutation that causes this is recessive and therefore only when the chromosomes are both homozygous recessive with this mutation, the disease will occur. Cystic Fibrosis is caused by the presence of mutations on both copies of the gene that codes for the protein cystic fibrosis transmembrane conductance regulator.
This condition can be diagnosed by sweat tests and genetic testing and in some areas of the world infants are scanned for it. There is no treatment that cures cystic fibrosis, but the lung infections are treated with antibiotics and sometimes the antibiotic azithromycin is used long term. If lung functions continue to worsen lung transplants are an option and pancreatic enzyme replacement and fat-soluble vitamin supplementation are vital. In the developed world life expectancy is between 37 and 50 years and lung problems cause 80% of death.
Pedigree chart (pedigree chart with genotype, etc. I will draw):
Compare pedigree charts of condition and rules of condition:
Huntington’s disease is dominant and Cystic fibrosis is recessive, which means that if your parents have Huntington’s disease only one mutant gene will be enough for you to have to the disease. With cystic fibrosis two mutated genes are needed.
Both conditions are autosome so an equal number of male and females are affected.
Both conditions can also not be cured and are passed on, as they are genetic diseases.
Huntington’s disease is a genetic disease. All humans have 2 copies of the Huntingtin gene, which codes for the protein Huntingtin. Part of this gene is a repeated section, which varies in length between individuals and may change length between generations. When length of this repeated section reaches a certain point, it produces an altered protein called mutant Huntingtin protein. The Huntington’s disease mutation is genetically dominant and almost fully penetrant (carriers of mutation are very likely to develop disease). It is not sex linked however its severity can be influenced by sex of the affected parent. Each offspring of an affected individual haws a 50% risk of inheriting the mutant allele and therefore have the disease.
There is no treatment available that altar the course of Huntington’s disease however there are medications with lessen the symptoms. To lessen the movement disorders drugs like Tetrabenazine is used, which supresses the involuntary mobilizing drugs treatments. To treat the psychological effects Antidepressants, antipsychotic and mood-stabilizing drugs are used. Often are also therapies recommended, such as Psychotherapy, Speech therapy, Physical therapy and occupational therapy. Predictive genetic testing is often used for people at risk f developing this disease. For this a blood test is taken and then the numbers of CAG repeats are counted in each HTT alleles. Embryos produced using in vitro fertilization can also be genetically tested for Huntington’s disease.
Pedigree chart;
Cystic fibrosis is a genetic disorder that mostly affects the lung but also the pancreas, liver, kidney and intestine. It can cause frequent lung infections and due to this long term issues such as difficulty breathing and coughing up sputum can develop. Other symptoms include sinus infections, poor growth, fatty stool, clubbing of the finger and toes and infertility in male. Other signs of cystic fibrosis is salty tasting skin, poor weight gain despite normal food intake and accumulation of thick, sticky mucus.
It is an autosome recessive disorder. This means that it isn’t sex linked that the mutation that causes this is recessive and therefore only when the chromosomes are both homozygous recessive with this mutation, the disease will occur. Cystic Fibrosis is caused by the presence of mutations on both copies of the gene that codes for the protein cystic fibrosis transmembrane conductance regulator.
This condition can be diagnosed by sweat tests and genetic testing and in some areas of the world infants are scanned for it. There is no treatment that cures cystic fibrosis, but the lung infections are treated with antibiotics and sometimes the antibiotic azithromycin is used long term. If lung functions continue to worsen lung transplants are an option and pancreatic enzyme replacement and fat-soluble vitamin supplementation are vital. In the developed world life expectancy is between 37 and 50 years and lung problems cause 80% of death.
Pedigree chart (pedigree chart with genotype, etc. I will draw):
Compare pedigree charts of condition and rules of condition:
Huntington’s disease is dominant and Cystic fibrosis is recessive, which means that if your parents have Huntington’s disease only one mutant gene will be enough for you to have to the disease. With cystic fibrosis two mutated genes are needed.
Both conditions are autosome so an equal number of male and females are affected.
Both conditions can also not be cured and are passed on, as they are genetic diseases.