The seminar presentation entitled "How to Build a Muscle: A Selective Proteome Says It All" will be presented by the former leading man of the Biology Department, Dr. Gary R(ascal) Walker. Please be sure to attend virtually at https://ysu.webex.com/ysu/j.php?MTID=m9dfa54f3211760ce86c19a125575ad19 and ask him any questions you wish, especially about Star Wars.
UPDATED 10/07/20:
Dr. Walker has changed the title and focus of his seminar. See below.
One of Dr. Walker’s research projects was done on Autoimmune Rippling Muscle Disease (ARMD). Dr. Walker wanted to find out if this disease was genetic or autoimmune, what the auto-antigens were, and if there was a functional significance in Ab/Ag interaction.
ReplyDeleteThis disease was found to be an autoimmune disease that was categorized by the appearance of several autoantibodies. Autoantibodies help us monitor the progression of a disease, diagnose a disease and helps confirm a prognosis.
The study showed that the contractions of this disease did not involve motor unit action potentials. It also showed that the human Titin gene was present.
What other diseases have been shown to contain the mutation of the human Titin gene?
How does the CAV3 gene mutation affect patients with rippling muscle disease?
The recent work on the human Titin gene has unveiled a number of diseases that are attributed to and/or caused by mutations in the gene. Heart disease, muscular dystrophy, and cardiomyopathy have all been linked to the Titin gene. Mutations in the human Titin gene seem to most often affect muscular and neuromuscular systems.
ReplyDeleteThe CAV3 gene mutation can be passed down from parents to children and leads to reduced production of caveolin-3, which is a protein that provides structure and support to muscle cells, along with regulating the levels of calcium within those cells. Lower amounts of the caveolin-3 protein can lead to rippling muscles and the inability for muscles to relax once shortened or flexed.
Modifications of the human titin gene can cause cardiac diseases such as dilated cardiomyopathy and heart failure with preserved ejection fraction.
ReplyDeleteSource: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3594684/pdf/nihms-437750.pdf
Dr. Walker recapped his career in biology and presented some of his research on Autoimmune Rippling Muscle Disease (ARMD). This was found to be an autoimmune disease relating to multiple autoantibodies.
Question: What are some of the uses of autoantibodies?
Dr. Walkers work on Autoimmune Rippling Musicle Disease was very interesting. It mostly affects the muscles and symptoms start during late childhood. Some of the symptoms can include fatigue, cramps, stiffness, and muscle contractions. CAV3 gene causes this disease because of mutations.
ReplyDeleteTitin gene mutations can cause other myopatyy and muscular disorders. One example of another disease caused by a titin mutations is heart failure. It causes the heart muscle to enlarge and weaken.
The human Titin gene encodes a large protein called titin which plays a crucial role in muscle movement of skeletal and cardiac muscles. Due to this important role in muscular movement, mutations in the Titin gene have been linked to numerous diseases such as muscular dystrophies, cardiac diseases, heart failure, and cardiomyopathy. When the CAV3 gene is mutated in Rippling Muscle Disease (RMD) it causes a decrease in caveolin-3 protein production in the muscle cell membrane. Caveloin-3 protein is the main component of caveolae and has numerous functions including controlling calcium levels in the muscle cells, cell structure maintenance, and organizing molecules for cell signaling. These low caveolin-3 protein levels lead to abnormal calcium levels in muscle cells. Abnormal calcium levels result in abnormal muscle contraction and relaxation when the muscle is stimulated.
ReplyDeleteDr. Walker's presentation on Autoimmune Rippling Muscle Disease (ARMD) was interesting. It belongs to a group of conditions called caveolinopathies. It is hereditary and associated with primary caveolin-3 deficiency.
ReplyDeleteMutations in CAV3 gene causes a reduction of caveolin-3 protein production within the muscle cells which disrupts normal regulations of calcium levels in the muscle cells, therefore leads to impaired muscle cells function.