New insight into the cellular defects in Huntington's disease
October 10, 2011 in Medical research
Huntington disease is a devastating neurogenerative disorder that causes a progressive loss of functional capacity and reduced life span. It is an inherited condition caused by a mutant HTT gene. Although this has been known for many years, the functions of the normal Htt protein and the mechanisms by which the mutant protein generated from the mutant HTT gene causes disease are not well understood. A team of researchers led by Frédéric Saudou, at the Institut Curie, France, has now uncovered a new function for normal Htt protein and determined that this function is disrupted in a mouse model of Huntington disease and in patients with the disorder.
Detailed analysis by Saudou and colleagues determined that normal Htt protein regulates the formation of cellular structures known as cilia and that cilia were longer and disorganized in the mouse model of Huntington disease and patients. They therefore suggest that abnormal cilia could be a cause of some of the symptoms of Huntington disease. However, they also caution that further studies are needed to prove this. This point is also made in an accompanying commentary by Scott Zeitlin and Jeh-Ping Liu, at the University of Virginia, Charlottesville, who go on to note that determining this is critical to discerning whether therapeutic strategies designed to normalize ciliary function could ameliorate the symptoms of Huntington disease.
More information: Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease: www.jci.org/articl… 83a0d00ac557
Provided by Journal of Clinical Investigation
-
Neuroscientists unveil molecular pathway involved with Huntington's disease
Feb 17, 2010 |
not rated yet |
0
-
Study suggests new treatments for Huntington's disease
Jan 09, 2008 |
not rated yet |
0
-
A step toward controlling Huntington's disease?
Jun 23, 2011 |
not rated yet |
0
-
Ku70 shown to be critical regulator of DNA damage in Huntington's disease
May 03, 2010 |
not rated yet |
0
-
Research links huntingtin to neurogenesis
Aug 11, 2010 |
not rated yet |
0
-
Motion perception revisited: High Phi effect challenges established motion perception assumptions
Apr 23, 2013 |
3 / 5 (2) |
2
-
Anything you can do I can do better: Neuromolecular foundations of the superiority illusion (Update)
Apr 02, 2013 |
4.5 / 5 (11) |
5
-
The visual system as economist: Neural resource allocation in visual adaptation
Mar 30, 2013 |
5 / 5 (2) |
9
-
Separate lives: Neuronal and organismal lifespans decoupled
Mar 27, 2013 |
4.9 / 5 (8) |
0
-
Sizing things up: The evolutionary neurobiology of scale invariance
Feb 28, 2013 |
4.8 / 5 (10) |
14
-
Pressure-volume curve: Elastic Recoil Pressure don't make sense
May 18, 2013
-
If you became brain-dead, would you want them to pull the plug?
May 17, 2013
-
MRI bill question
May 15, 2013
-
Ratio of Hydrogen of Oxygen in Dessicated Animal Protein
May 13, 2013
-
Alcohol and acetaminophen
May 13, 2013
-
Marie Curie's leukemia
May 13, 2013
- More from Physics Forums - Medical Sciences
More news stories
Study suggests new source of kidneys for transplant
Nearly 20 percent of kidneys that are recovered from deceased donors in the U.S. are refused for transplant due to factors ranging from scarring in small blood vessels of the kidney's filtering units to the organ going too ...
Medical research
11 hours ago |
5 / 5 (2) |
0
|
Discovery of circadian clock in mice hair reveals period of time when damage from radiotherapy can be quickly repaired
Discovering that mouse hair has a circadian clock - a 24-hour cycle of growth followed by restorative repair - researchers suspect that hair loss in humans from toxic cancer radiotherapy and chemotherapy ...
Medical research
11 hours ago |
5 / 5 (2) |
1
|
Do salamanders hold the solution to regeneration?
Salamanders' immune systems are key to their remarkable ability to regrow limbs, and could also underpin their ability to regenerate spinal cords, brain tissue and even parts of their hearts, scientists have ...
Medical research
12 hours ago |
4.8 / 5 (6) |
2
|
New study finds blind people have the potential to use their 'inner bat' to locate objects
New research from the University of Southampton has shown that blind and visually impaired people have the potential to use echolocation, similar to that used by bats and dolphins, to determine the location of an object.
Medical research
15 hours ago |
not rated yet |
1
|
Germ-fighting vaccine system makes great strides in delivery
A novel vaccine study from South Dakota State University (SDSU) will headline the groundbreaking research that will be unveiled at the American Association of Pharmaceutical Scientists' (AAPS) National Biotechnology Conference ...
Medical research
15 hours ago |
not rated yet |
0
New immune system discovered
(Medical Xpress)—A research team, led by Jeremy Barr, a biology post-doctoral fellow, unveils a new immune system that protects humans and animals from infection.
Early-life traffic-related air pollution exposure linked to hyperactivity
Early-life exposure to traffic-related air pollution was significantly associated with higher hyperactivity scores at age 7, according to new research from the University of Cincinnati (UC) and Cincinnati Children's Hospital ...
The compound in the Mediterranean diet that makes cancer cells 'mortal'
New research suggests that a compound abundant in the Mediterranean diet takes away cancer cells' "superpower" to escape death. By altering a very specific step in gene regulation, this compound essentially re-educates cancer ...
Scientists identify molecular trigger for Alzheimer's disease
Researchers have pinpointed a catalytic trigger for the onset of Alzheimer's disease – when the fundamental structure of a protein molecule changes to cause a chain reaction that leads to the death of neurons ...
Resistance to last-line antibiotic makes bacteria resistant to immune system
Bacteria resistant to the antibiotic colistin are also commonly resistant to antimicrobial substances made by the human body, according to a study in mBio, the online open-access journal of the American Society for Microb ...
Practice makes perfect? Not so much
Turns out, that old "practice makes perfect" adage may be overblown. New research led by Michigan State University's Zach Hambrick finds that a copious amount of practice is not enough to explain why people ...
