Sign In
Not register? Register Now!
11 pages/≈3025 words
7 Sources
Biological & Biomedical Sciences
Thesis Proposal
English (U.S.)
MS Word
Total cost:
$ 39.95

Gap Junction Channels Dysfunction in Deafness and Hearing Loss (Thesis Proposal Sample)


writing a proposal on gap junction dysfunction


Gap Junction Channels Dysfunction in Deafness and Hearing Loss

Gap junctions are essential in communication and transport of small molecules and ions in cells. They are formed by hemichannels, a complex of connexins (in chordates). Syndromic and non-syndromic (DFNB1) deafness has implicated mutations in some connexins, with the most significant being on the connexin-26 (Cx26) protein. The mutations are in the connexin-encoding gene (GJB2), which has been proved the cause of autosomal recessive hearing loss that is non-syndromic. Though a few of these mutations are dominant, most of them are recessive and can be activated in the offspring if both parents have the mutated gene. Cx26 expression can be demonstrated in the basement membrane, stria vascularis, limbus, and the spiral prominence. The loss of Cx26 in the gap junction complex is expected to disrupt the recycling of potassium. This study analyzes the relationship between the dysfunction of the gap junction and hearing loss. The implication of the connexin gene mutation in the pathophysiology of some progressive adult deafness may lead to prospects in the fine diagnostics of the ear diseases. The eventuality of this is new therapeutic strategies will be essential to treat the increasingly prevalent hearing conditions.
Gap Junction Channels Dysfunction in Deafness and Hearing Loss
Problem Statement
Hereditary deafness is an incident disorder occurring in approximately one in every thousand live births. There have been numerous inconclusive studies on the topic. An understanding of the base cause of the enigma may lead to improved therapeutic care for patients born with deafness and hearing dysfunction. The center of this study shall be on finding a solution to this challenge. It shall seek to find answers to the following questions. Are connexin-26 dysfunctions implicated in hearing loss and deafness? How are they implicated? Does the connexin-26 dysfunction affect the skin or is it just the ear?
Background Literature
The study of gap channel dysfunction is not a new field. It is an area that has undergone several studies but scientists have failed to obtain concrete results. With most of the research being done in the 20th century, the techniques employed at the time might have been inappropriate to yield high quality results. With advent of more real-time molecular techniques such as PCR and southern blotting, this study seeks to explore deeper into the area of gap channel dysfunction. From the results, answers about the connexin-26, which has been long linked with hearing loss, shall be generated. With a control group from the healthy population, the study shall seek to identify specific gene mutations in the GJB2 gene of the deaf participants.
Gap junctions are intercellular cell membrane domains that contain arrays of channels. These channels provide a site of exchange of small molecules and ions between adjacent cells. They are found virtually in all cells of solid tissue. Gap junctions allow membrane potential to pass from one cell to another. The channels are made up of medium-sized hexamer families of integral proteins. These are innexins in pre-chordates and connexins in chordates (Goodenough & Paul, 2009). The gene GJ codes for the connexin proteins. The gene GJB2 codes for the protein connexin 26, which has been implicated in sensor neural hearing loss.
Connexins (Cxs) make up (GJCh); they are subsidiaries of the junction channel made up of proteins. They are significant in the intercellular communication. This mediates metabolic and ionic coupling of neighboring cells. Many pannexins and connexins subtypes (26, 29, 30, 31, 43) are expressed in the ear’s cochlea (Martínez et al., 2009). They contribute to the creation of an intercellular communication network based on the GJ gene. The most predominant connexins in the cochlear are Cx26 and Cx30. They form hybrid GJs after co-assembling in many Gap Junction plaques. The cellular location of particular connexin subtypes makes a foundation for comprehension of the structure of hemichannels (HCs) and GJs in the cochlea. It takes an intracellular compartment and six subunits of connexin oligomerize to establish a hemichannel. The secretory pathway distributes HCs to the cell membrane. Microtubules confined to the vesicles aid in the ...
Get the Whole Paper!
Not exactly what you need?
Do you need a custom essay? Order right now:

Other Topics:

  • Thesis and Literature Review: Air Quality Assessment
    Description: Air pollution continues to be a major problem affecting the overall air quality globally partly because of natural processes largely because of human activities...
    1 page/≈275 words| 15 Sources | APA | Biological & Biomedical Sciences | Thesis Proposal |
Need a Custom Essay Written?
First time 15% Discount!