Bunnies Do Handstands Instead of Hops: Genetic Defects

 

In this article, Erin Garcia de Jesus discusses how a genetic defect may cause bunnies to do handstands instead of hopping as a way to move fast. A rabbit called sauteur d’Alfort sends its back legs sky high and walks on its front paws. That strange form may be the result of a gene tied to limb movement, researchers report March 25 in PLOS Genetics. Mice have also shown this similar trait and walked on their front limbs to run. 

Understanding this genetic defect and how they move, can help improve our knowledge on the spinal cord. A mutation in the RORB gene is a likely candidate for the rabbits’ handstands. That mutation causes faulty versions of the genetic instructions that cells use to make proteins, which means there is less of the RORB protein in specialized nerve cells in rabbits that have the mutation compared with rabbits that don’t. Without the RORB protein in spinal cord nerve cells (interneurons) , the rabbits may lack the ability to coordinate what their hind limbs are doing, which affects their ability to hop regularly. Understanding this, and how one possible mutation affects how animals move, and ultimately help develop ways to repair the body when defects in RORB cause diseases/immobility. 

Links:

https://www.sciencenews.org/article/rabbit-handstand-front-paws-gene-defect-video

https://www.nature.com/articles/d41586-021-00775-9#:~:text=An%20unusual%20rabbit%20that%20walks,hind%20legs%20in%20the%20air.

Higher Rates of Chronic Pain in Women May be Linked to Genetics

    According to University of Glasgow, women may be at a greater risk of chronic pain due to genetics. To understand why more women suffered from chronic pain compared to men, the researchers conducted a study. The researchers found that chronic pain originates to a large extent in the brain. “They found that all 37 genes in men and all but one of the 31 genes in women were active in the dorsal root ganglion.” The dorsal root ganglion is a cluster of nerves that transmit pain signals from the body to the brain. The researchers believe that this finding will change the way patients are treated for pain. Overall, this finding will help develop novel therapies for this hard-to-treat condition.

Articles:

https://neurosciencenews.com/women-chronic-pain-genetics-18203/

https://doi.org/10.1371/journal.pgen.1009428

Genes and Parkinson's Disease

Researchers from King's College London have been able to identify a gene linked to nerve function which they believe could provide a treatment target for 'switching off' the gene responsible for neurodegenerative diseases such as Parkinson's.  Their study was conducted using the larval stages of Drosophila.  The nerve cells were genetically engineered to create a green flourescent protein, which allowed these researchers identify nerves with damaged mitochondria.  "A gene called HIFalpha was found to regulate the nerve signals from damaged mitochondria and, when this gene was 'switched off' by the research team, nerve function in flies with Parkinson's disease was restored.  By deactivating the HIFalpha gene, the early failure of nerve cells caused by mitochondrial damage was prevented." (King's College London)  With these findings, researchers now have a greater understanding of how nerve cells work.

I really enjoyed this article and found it to be very promising for patients suffering with these 'incurable' diseases. With this new research I hope that scientists are able to create a drug that will give positive results and relief to patients.  Maybe with this research a cure for these diseases, including Parkinson's, will arise!

Check out the article here. To read more on Parkinson's disease click here.

Study Suggests Migraines are Linked to Defective 'Insulation" Around Nerve Fibers

Bahman Guyuron, an ASPS member surgeon at Case Western Reserve University in Cleveland found that there are abnormalities with the myelin sheath in patients that have migraines. Myelin sheath is a fatty material that protects and insulates the neurons.

The research consisted of 15 patients that underwent surgery for migraines and 15 patients that were undergoing a cosmetic forehead lift. They found in the results that the myelin sheath was either missing or damaged in the 15 patients that underwent surgery for migraines compared to the 15 patients that got a cosmetic forehead lift. Dr. Guyuron states that damage to the myelin sheath can make the nerves more  prone to irritation which can trigger migraines.

Dr.Guyuron noticed that many migraine patients had reduced symptoms after undergoing a cosmetic forehead lift. This surgery involved the removal of some muscle and vessel tissue that surrounded the cranial nerves. Since this shows that cranial nerves are also involved this could lead to other opportunities to treat patients in an easier way.

I really enjoyed reading this article because I live with migraines and seeing that they are starting to find different procedures to treat them is great. The more research they do the more they find out and this could possibly lead to more opportunities to find out different ways to treat migraines. It could lead to more easier and inexpensive ways which could be helpful for everyone.

Article: http://www.sciencedaily.com/releases/2014/11/141103113557.htm

Multiple Sclerosis: 48 additional genetic variants found that are associated with the disease

 

Earlier in September of 2013, scientists from the International Multiple Sclerosis Genetics Consortium (IMSCG) made a groundbreaking discovery that sheds more light on the neurological disease of multiple sclerosis, or MS. These scientists discovered that there are 48 additional genetic variants that affect the ability of being diagnosed with MS.

 

Multiple sclerosis is a disease in which an affected individual's immune system destroys the myelin sheath around the nerve. This deterioration of the myelin sheath causes a disturbance in the passage and reception of nerve cells throughout the body. Some of the common symptoms of MS are: blurred vision, dizziness, loss of sensation, depression, muscle spasms, numbness, and loss of coordination and/or balance. It has been found that over 2.5 million individuals suffer from MS all over the world. The inheritance of this disease is also possible; it is more likely for one to get the disease if they have other relatives that have had it as well.

 

 

The individuals of the IMSCG group used a genotyping piece of technology called the ImmunoChip. The ImmunoChip was created to determine genetic variants that are associated with certain diseases. These researchers used the ImmunoChip to study over 29,000 MS affected genomes and over 50,000 unaffected genomes. With these 48 new genetic variants that were discovered, the amount of genetic variants related to MS now equals 110. And while this seems that there was a decent amount of the disease most recently discovered and understood, the article from Science Daily says that these findings added to the older findings only accounts for about 20% of the genetic side of MS.

 

I find these findings are very important because the more researchers can break apart this disease, the more specific they can get to understand what needs to be done in order to administer some sort of relief to the affected individuals. The more these scientists understand about the molecular break down of the disease, the more likely they will be able to come up with drugs and treatment options for these individuals that suffer from multiple sclerosis. While it seems like these individuals have a long way to go in order to reach this goal, these individuals just doubled their previous knowledge just in this one experiment alone. If they continue to study and dive deeper and deeper into the molecular biology and genetics, the closer a cure for MS is most definitely in sight.

 

 

http://www.sciencedaily.com/releases/2013/09/130930093858.htm

http://www.stemcellmd.org/conditions-treated/neurological-conditions/multiple-sclerosis/