1) acute inflammation/infection of the peripheral nervous system due to the chicken pox virus a) variciella virus…
1. What does the term genetic disease mean? What examples of generic diseases do you know about?…
Lysosomes degrade glycogen and certain lipids in the brain at a relatively constant rate. In Tay-Sachs disease, an inherited condition seen mostly in Jews from Central Europe, the lysosomes lack an enzyme needed to breakdown a glycolipid abundant in nerve cell membranes. As a result, the nerve cell lysosomes sweel with undigested lipids, which interfere with nervous system functioning. Affected infants typically have doll-like features and pink translucent skin. At 3 to 6 months of age, the first symptoms progress to mental retardation, seizures, blindness, and ultimately death within 18 months.…
Paediatrics is the medical science related to the diagnosis and treatment of childhood illness. One of the illness such as Pierre Robin Syndrome (PRS) also called Pierre Robin Complex or Sequence was identified by Pierre Robin a French stomatologist in 1923. That is a facial difference condition with a very small lower jaw (micrognathia or retrognathia) (Figure 1), a normal size of tongue but in the setting of a very small jaw that the tongue looks large tends to fall a downward or backward-positioned toward the throat (glossoptosis)(Figure 2) can act as an obstruction and result in a U-shaped cleft palate presented at birth (birth defect) (Redett, 2008). This malformation development occurs in the womb and approximately one in 8,500 to 14,000…
The basis of healthy body functioning in all organisms is the health of their cells. The physical and chemical factors of the environment surrounding these cells must remain within narrow limits for cells to survive. These narrow limits need to be maintained and any deviation from these limits must be quickly corrected. A breakdown in the maintenance of this balance causes problems for the organism.…
A rare disease that is inherited is Tay-Sachs disease. What the disease does is it destroys nerve cells located in the Spinal cord and the brain. The most common type of Tay-Sachs appears in infants. The disease is present early in development but the symptoms usually don’t appear until after the age of 4. Symptoms appear as a slowing or halting of development to include loss of motor skills, seizures, vision and hearing loss. A red spot on the eye referred to as a cherry-red spot is usually found during an eye exam. There is no known cure for Tay-Sachs disease. Children with the disease usually die by age 5.…
proposed two scenarios that explain the mechanism of the two proteins behind the disease (2005). In the first scenario, laforin and malin work on the same substrate (protein X) and promote its degradation. Protein X would be dephosphorylated by laforin, which can be subsequently ubiquitinated by malin for its degradation. In this case, degradation of protein X allows for proper glycogen metabolism and it is the accumulation of protein X in the absence of functional malin that results in Lafora disease. In the second scenario, laforin acts both as an activator and repressor of proper glycogen metabolism. Laforin dephosphorylates protein X and laforin is polyubiquitinated and degraded subsequently by malin, and this event allows for the proper glycogen construction or inhibition of abnormal glycogen accumulation. In this case, mutation in malin that results in the failure of polyubiquitination of laforin or mutation in laforin that results in the failure of dephosphorylation of protein X would result in aberrant glycogen metabolism and consequently lead to Lafora disease. A more recent study done by Roma-Mateo et al. shows that laforin interacts physically with malin and the laforin-malin complex controls glycogen synthesis by specific ubiquitinating and promoting the proteasome-degradation of neuronatin, an 81 amino acid protein that stimulates glycogenesis…
In children with Tay-Sachs disease, a faulty gene on chromosome 15 (HexA) causes the body to not produce the enzyme B-Hexosaminidase A. This means that the fatty substance (ganglioside) builds up in the brain and spinal cord, significantly damaging brain cells and therefore resulting in death.…
Tay-Sachs disease is an autosomal recessive disease that affects the lysosome storage in cells. Over time, the disease deteriorates the functions of the body leading to blindness, deafness, dementia, and recurrent convulsions in the terminal stages. Unfortunately, its main victims are children, who often show the first signs and symptoms at around 6 months old and usually do not live past the age of 5. There is also a juvenile and late-onset form that may not appear until the second or third decade of life. By the year 1993 (American Medical Association), geneticists were able to identify that the cause of this disease is triggered by a mutation in the HEXA gene, located at 15q23-q24, which codes for the hexosaminidase A enzyme. Without this…
Lysosome within a cell can be compared to something like the exhaust of a car. The function of the lysosome is to digest and remove waste such as old organelles or food particles. Lysosome work when a part of the cell is damaged or there is a waste and it is moved to the lysosome where it is broken down and released through the cell membrane. Lysosome is like the exhaust of a car because like an exhaust lysosome help break down and eject harmful…
Which disease types, autosomal dominant or autosomal recessive are generally more common / persistent in populations? Explain your answer.…
DiGeorge syndrome is an anomaly that occurs when the 22q11.2 chromosome has been deleted, causing many different symptoms in various parts of the body. Those affected by DiGeorge syndrome often display signs of heart disease and defect at birth, presence of "cleft" palate (opening in the roof of the mouth), learning disorders, autoimmune diseases (such as rheumatoid arthritis), hypocalcaemia (low presence of calcium in blood), speech disabilities, and sometimes growth disorders. This syndrome is not explicitly fatal, but cardiac disorders caused by the DiGeorge syndrome are its greatest cause of mortality. Diseases contracted from severe immunity deficiency can also lead to death. It has…
Gaucher disease develops and partially reproduce to act as a molecular chaperone. This approach will direct and allow outgrowth of influence to get rid of certain fats. If the fat builds up, it can cause problems in the body which leads to the neurologist and visceral symptoms. I read in the article that there are typically three types of Gaucher’s disease. Type one is the most common disease and the symptoms may be mild, moderate, or severe. Type two affects the brain and spinal cord which is awful because that is where the storage of the nerves is. The nerves are a major component dealing with the body because it sends and receive information and allows our cells to communicate with each other. Type three is the same as type two, but it usually shows up later in the years. This can be dangerous because there’s no cure. It is best to get treated right…
Lysosomes are found only in the animal cell only. The Lysosomes job is to get rid of the unwanted waste in the cell.…
Autophagy is a process by which proteins and cellular organelles are “self-eating” and degraded. There are many major diseases that have been linked to mutations caused by autophagy, some of these diseases include: early onset Parkinson’s and certain cancers. That being said, there are many studies and clinical trials that are testing the effects of autophagy on the body and linking it mainly with cancer.…