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Cystic fibrosis and protein synthesis case study

Weyland examined a six month old infant that had been admitted to University Hospital earlier in the day. The baby's parents had brought young Zoey to the emergency room because she had been suffering from a chronic cough. In addition, they said that Zoey sometimes would "wheeze" a lot more than they thought was normal for a child with a cold. Upon arriving at the emergency room, the attending pediatrician noted that salt crystals were present on Zoey's skin and called Dr.
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TP53 tumor protein p53 [ (human)]

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- Gene ResultTP53 tumor protein p53 [ (human)]

Aminoglycosides such as gentamicin have the ability to suppress translation termination at premature stop mutations, leading to a partial restoration of protein expression and function. This observation led to studies showing that this approach may provide a viable treatment for patients with genetic diseases such as cystic fibrosis that are caused by premature stop mutations. Although aminoglycoside treatment is sometimes associated with harmful side effects, several studies have shown that the co-administration of polyanions such as poly-L-aspartic acid PAA can both reduce toxicity and increase the intracellular aminoglycoside concentration. In the current study we examined how the co-administration of gentamicin with PAA influenced the readthrough of premature stop codons in cultured cells and a cystic fibrosis mouse model. Following the withdrawal of gentamicin, PAA significantly prolonged the time interval during which readthrough could be detected, as shown by short circuit current measurements and immunofluorescence. Because the use of gentamicin to suppress disease-causing nonsense mutations will require their long term administration, the ability of PAA to reduce toxicity and increase both the level and duration of readthrough has important implications for this promising therapeutic approach. Abstract Aminoglycosides such as gentamicin have the ability to suppress translation termination at premature stop mutations, leading to a partial restoration of protein expression and function.
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Gene therapy

Feb 28, Research. A powerful class of antibiotics provides life-saving relief for people with cystic fibrosis; however, a new study for the first time reveals the levels at which high cumulative dosages over time significantly increases the risk of permanent hearing loss in these patients, according to a press release from Oregon Health and Science University. Cystic fibrosis, or CF, is an inherited chronic disease that affects the lungs and digestive system; approximately 30, people in the United States and 70, worldwide are living with the disease, according to the Cystic Fibrosis Foundation. New medications are emerging that have shown a reduced toxic effect on both the kidneys and ears of these patients, while effectively treating infections. The study examined the medical records of 81 CF patients, aged 15 to 63 years, grouping them into four quartiles based on the cumulative dosage of aminoglycoside antibiotics administered intravenously.
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To become a paid subscriber, begin the process by registering. Teaching notes are intended to help teachers select and adopt a case. They typically include a summary of the case, teaching objectives, information about the intended audience, details about how the case may be taught, and a list of references and resources. The following video s are recommended for use in association with this case study. The video then relates selected facts and statistics about CF, and ends with a description of current treatments that have helped to extend the life expectancy of those with CF.

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Comments (5)

  • [MEMRES-18]
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