Introducing
Your new presentation assistant.
Refine, enhance, and tailor your content, source relevant images, and edit visuals quicker than ever before.
Trending searches
The Danon Disease
43
Yasmine Brown,Kaleb Young,Emilio
AP Biology /B3
8-31-17
Mr.Amara
The DanonDisease
Company
Logo
Which organelle is associated with this disease?
Organelle Associated
The Vacuole
Definition-A membrane-bound vesicle found in the cytoplasm of a cell whose funtion includes intracellular secretion, excretion,storage,and digestion.
How does the malfunction of the organelle relate to the disease ?
Organelle Problems
- The vacuole is a very dangerous organelle. The malfunction of the vacuole can cause disease such as Danon disease.
How the malfunction is caused.
The Vacuole is not fit enough to be our chief. If we have too much of the vacuole it can lead to serious diseases such as Danons disease. Too many vacuoles cause damage to the cell.
What is it caused by.
Danons disease is caused by mutations in the LAMP 2 gene which usually helps with the fusion of autophagic vacuoles and lysosomes. When there are mutations with this gene then the lysosomes and the autophagic vacuole fuse very slowly. By slowly fusion this allows the number of autophagic vacuoles to increase substantially.
Effect of large amount.
If there is an large amount of autophagic vacuoles then this leads to the breakdown of muscles cells which is shown in Danons disease. Males with Danons disease usually die at the young age of 19; while females usually die at the age of 31.
What is the normal function of this organelle?
Normal Function of organelle
Vacuoles can serve a wide variety of functions in a cell, and their importance depends on what role they play within the cell. Typically, their job includes isolating harmful materials, storing waste products, storing valuable water in a plant cell, helping maintain the pressure within a cell, balancing the pH of a cell, exporting products out of the cell, and storing proteins for seed germination.
Vacuoles also have much more involved roles to play in the cell, such as autophagy, supporting biogenesis and degradation of various structures, and thelysisof unwanted proteins.
Other Normal Functions
Theory
Scientists have even theorized that the vacuole plays a significant part in destroying bacterial intruders or storing helpful bacteria.
Patients with Danon disease require frequent follow-up, with particular attention to the potential for atrial or ventricular arrhythmias and congestive heart failure (CHF). As is recommended in patients with hypertrophic cardiomyopathy (HCM), a ventricular septal thickness more than 30 mm is considered a risk factor for a life-threatening event, particularly in this group of patients who often have a poor prognosis for survival beyond their teenage years.
Treatment or Prevention
Citation
- http://organelleproblems.weebly.com/vacuole.html
- http://www.softschools.com/science/biology/function_of_the_vacuole/
- https://ghr.nlm.nih.gov/condition/danon-disease#diagnosis
- http://emedicine.medscape.com/article/952782-treatment#d5