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Protein Translation Disorders

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1. Which genetic disorder (other than Alzheimer's disease, familial amyotrophic lateral sclerosis, Huntington's disease, Parkinson's disease, Lewy body dementia, and prion disorders) results from protein misfolding? How does protein misfolding result in the onset of the disorder? In your opinion, is there sufficient current research on drugs or treatment for your chosen disorder?

2. Describe a genetic disorder (other than α-thalassemia mental retardation syndrome, immunodeficiency-centromeric instability-facial anomalies [ICF] syndrome, Rett syndrome, and Rubinstein-Taybi syndrome) that results from aberrant chromatin remodeling. Does the disorder result from adding or deleting acetyl, methyl, or phosphate groups? Explain. Does the abnormal chromatin remodeling affect other genes?

3. Describe a genetic disorder that results from aberrant gene splicing. How does alternative splicing affect the disorder? Where in the gene does the aberrant splicing occur?

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Protein translation

1. Which genetic disorder results from protein misfolding? How does protein misfolding result in the onset of the disorder? In your opinion, is there sufficient current research on drugs or treatment for your chosen disorder?

The genetic disorder emanating from protein misfolding that will be discussed is Obstructive Lung Disease. The onset of this disorder is brought forth by the endoplasmic reticulum evolving a number of mechanisms to manage the accumulation of incorrectly folded proteins, which in OBL results in loss of function of these proteins, because of conditions such as α-1 ...

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Protein translation and genetic disorders.

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Genetics and Inheritance of Traits or Genetic Disorders

Part I: Genetics - From Genes to Proteins, Mutations

Background: DNA represents the architectural blueprint for all living systems, encoding specific instructions in the sequence of its four nitrogen-containing base pairs that are necessary for building the organism. During the process of transcription, the information in the DNA codons of a gene is transcribed into RNA.

A change in the DNA sequence, for example as a result of a "mistake" during DNA replication, is defined as a mutation. Mutations may result in a change in the "blueprint," which may then change the resulting protein product.

Part one: PLEASE REFER TO THE ATTACHED WORKSHEET TO ANSWER.

Transcribe and translate EACH of the three following DNA gene sequences and answer the related questions on the worksheet.

Note: The first is the original gene. The next two are mutations of the original.

Original Gene sequence 3'-T A C C C T T T A G T A G C C A C T-5

Mutated gene sequence 1 3'-T A C G C T T T A G T A G C C A T T-5'

Mutated gene sequence 2 3'-T A A C C T T T A C T A G G C A C T-5'

Part 2:
Inheritance of Traits or Genetic Disorders

Background: Cystic fibrosis is an inherited disease that affects the respiratory, digestive, or reproductive systems of the body, with symptoms ranging from mild to severe. Bob and Sally are recently married. Upon deciding to plan a family, both Sally and Bob find out that they are both heterozygous for cystic fibrosis, but neither of them has symptoms of the disorder.

Complete a Punnett Square for cystic fibrosis for this couple using the following alleles: C = normal allele; and c = allele for cystic fibrosis.

Complete the Punnett Square in the ATTACHED WORKSHEET.

Part 3: Cell division, sexual reproduction and genetic variability

Background: Eukaryotic cells can divide by mitosis or meiosis. In humans, mitosis produces new cells for growth and repair; meiosis produces sex cells (gametes) called sperm and eggs. Although mutations are the ultimate source of genetic variability, both meiosis and sexual reproduction also can contribute to new genetic combinations in offspring.

PLEASE ANSWER THE FOLLOWING QUESTION ON YOUR ATTACHED WORKSHEET.
Question: How do both meiosis and sexual reproduction (fertilization) produce offspring that differ genetically from the parents? Be sure to talk about the two specific steps in meiosis that increase variability as well as the process of fertilization.

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