This web page was produced as an assignment for Genetics 677, an undergraduate course at UW-Madison
Popular Press Review
After scouring popular press sources I have found that very little is publicly written about Usher Syndrome with respect to the CDH23 gene. The scientific article analyzed in this website indicates that discovery of cadherin 23 has only been recently associated as a player in mechanotransduction: the process in which cells convert a mechanical stimulus (such as noise), to an electrical force. Such a recent discovery may be culprit for lack of public diffusion.
The article “Molecular Defect Involved in Hearing Loss Discovered” primarily concerns another gene of interest in the mechanotransduction pathway, harmonin. The article breaks down into three sections which each provide very bare detail.
The first section defines the process of mechanotransduction (the definition above is based off of it), links its dysfunction to ‘diesases, such as Usher’s syndrome, and provides quotes from the primary author of the paper upon which the article is based. Within the quotes Mueller provides very concise justification for studying mechanosensory perception. He argues that, for all we know about tasting and smelling, the other senses, which are mechanosensory in nature, are mysterious. The first section concludes the logical argument for this type of research by implying that, if we learn more about these pathway types, we can begin to combat disease prevalent in these pathways.
The second section provides an overview of how sound waves are produced, captured and converted to electrical activity. I think the article provides an adequate general overview on the process, excluding one gap in process. The author writes “…[tip links]… connect the tips of stereocilia, transmit physical force to the gated ion channels that are attached to them. The opening of these ion channels, which are monitored by sensory neurons, communicate the electrical signals to neurons in the brain, enabling hearing.”There is a disconnect in the process described. The author tells us that tip links transmit a physical force to gated ion channels, but never tells us that this force has any affect whatsoever. Instead, the pathway picks up with another newly introduced component, sensory neurons. Perhaps the author implied that the physical force opens ion channels, whose signal gets transmuted to the sensory neuron, which travels to the brain. The components of the pathway, and their interactions get lost in the journalistic translation.
The last section discusses our gene of interest CDH23. Outlining some practical challenges in studying mechanotransduction, namely the small size of stereocilia, the author reemphasizes that this research is in its early stages. Cadherin 23 and protocadherin 15 are described as being on the tip link and being responsible for opening ion channels. Cadherin 23 was also responsible for forming a complex with myosin 1c, a complex which is responsible for closing ion channels. Harmonin was brought up one last time as a colocalizer with cadherin 23 to the tip link and as a requirement for mechanotransduction. No evidence is supplemented with these claims. The authors make no mention about the methods with which they obtained the data. This article is strictly concerned with establishing a purpose for study, a statement of finding, minimal and logically shaky background info, and implications that in themselves need to be implied from the text.
Article Information:
Molecular Defect Involved In Hearing Loss DiscoveredScienceDaily (May 14, 2009)
URL: http://www.sciencedaily.com/releases/2009/05/090513130939.htm
The article “Molecular Defect Involved in Hearing Loss Discovered” primarily concerns another gene of interest in the mechanotransduction pathway, harmonin. The article breaks down into three sections which each provide very bare detail.
The first section defines the process of mechanotransduction (the definition above is based off of it), links its dysfunction to ‘diesases, such as Usher’s syndrome, and provides quotes from the primary author of the paper upon which the article is based. Within the quotes Mueller provides very concise justification for studying mechanosensory perception. He argues that, for all we know about tasting and smelling, the other senses, which are mechanosensory in nature, are mysterious. The first section concludes the logical argument for this type of research by implying that, if we learn more about these pathway types, we can begin to combat disease prevalent in these pathways.
The second section provides an overview of how sound waves are produced, captured and converted to electrical activity. I think the article provides an adequate general overview on the process, excluding one gap in process. The author writes “…[tip links]… connect the tips of stereocilia, transmit physical force to the gated ion channels that are attached to them. The opening of these ion channels, which are monitored by sensory neurons, communicate the electrical signals to neurons in the brain, enabling hearing.”There is a disconnect in the process described. The author tells us that tip links transmit a physical force to gated ion channels, but never tells us that this force has any affect whatsoever. Instead, the pathway picks up with another newly introduced component, sensory neurons. Perhaps the author implied that the physical force opens ion channels, whose signal gets transmuted to the sensory neuron, which travels to the brain. The components of the pathway, and their interactions get lost in the journalistic translation.
The last section discusses our gene of interest CDH23. Outlining some practical challenges in studying mechanotransduction, namely the small size of stereocilia, the author reemphasizes that this research is in its early stages. Cadherin 23 and protocadherin 15 are described as being on the tip link and being responsible for opening ion channels. Cadherin 23 was also responsible for forming a complex with myosin 1c, a complex which is responsible for closing ion channels. Harmonin was brought up one last time as a colocalizer with cadherin 23 to the tip link and as a requirement for mechanotransduction. No evidence is supplemented with these claims. The authors make no mention about the methods with which they obtained the data. This article is strictly concerned with establishing a purpose for study, a statement of finding, minimal and logically shaky background info, and implications that in themselves need to be implied from the text.
Article Information:
Molecular Defect Involved In Hearing Loss DiscoveredScienceDaily (May 14, 2009)
URL: http://www.sciencedaily.com/releases/2009/05/090513130939.htm
Ben Hofeld, [email protected], last updated: 5.15.2010, Link to course page: www.gen677.weebly.com
