Neuroscience
From an NIH press release:
Study Implicates Potassium Channel Mutations in Neurodegeneration and Mental Retardation
For the first time, researchers have linked mutations in a gene that regulates how potassium enters cells to a neurodegenerative disease and to another disorder that causes mental retardation and coordination problems. The findings may lead to new ways of treating a broad range of disorders, including Alzheimer's and Parkinson's diseases. The study was funded in part by the National Institutes of Health's National Institute of Neurological Disorders and Stroke (NINDS).
"This type of gene has never before been linked to nerve cell death," says Stefan Pulst, M.D., of Cedars-Sinai Medical Center at the University of California, Los Angeles, who led the new study. The report will appear in the February 26, 2006, advance online publication of Nature Genetics.
In the study, the researchers looked for the gene that caused a neurodegenerative movement disorder called spinocerebellar ataxia in a Filipino family. This disorder typically appears in adulthood and causes loss of neurons in the brain's cerebellum, resulting in progressive loss of coordination (ataxia). Dr. Pulst and his colleagues traced the disease in this family to mutations in a gene called KCNC3. The gene codes for one of the proteins that form potassium channels — pore-like openings in the cell membrane that control the flow of potassium ions into the cell. The researchers found a different KCNC3 mutation in a previously identified French family with a disease called spinocerebellar ataxia type 13, which causes childhood-onset ataxia, cerebellar degeneration, and mild mental retardation.
The KCNC3 gene codes for a type of potassium channel that normally opens and closes very quickly. This type of channel is particularly important in "fast-bursting neurons" that fire hundreds of times per second in the brain. "Fast-bursting neurons are like building blocks — they are used in the nervous system a lot," Dr. Pulst says. Among other places, these neurons are found in the brain's substantia nigra, where they aid in motor control, and in the hippocampus, where they play a role in learning. Previous studies have found abnormalities in the number of potassium channels in Parkinson's, Alzheimer's, and Huntington's diseases. Together with the new study, these findings suggest that potassium channel abnormalities may contribute to a wide variety of neurodegenerative diseases.
[ ... Read the full press release ... ]
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Anthony H. Risser | neuroscience | neuropsychology | brain
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Neuroscience
Potassium Channel Regulation Abnormalities in Neurodegeneration
From an NIH press release:
Study Implicates Potassium Channel Mutations in Neurodegeneration and Mental Retardation
For the first time, researchers have linked mutations in a gene that regulates how potassium enters cells to a neurodegenerative disease and to another disorder that causes mental retardation and coordination problems. The findings may lead to new ways of treating a broad range of disorders, including Alzheimer's and Parkinson's diseases. The study was funded in part by the National Institutes of Health's National Institute of Neurological Disorders and Stroke (NINDS).
"This type of gene has never before been linked to nerve cell death," says Stefan Pulst, M.D., of Cedars-Sinai Medical Center at the University of California, Los Angeles, who led the new study. The report will appear in the February 26, 2006, advance online publication of Nature Genetics.
In the study, the researchers looked for the gene that caused a neurodegenerative movement disorder called spinocerebellar ataxia in a Filipino family. This disorder typically appears in adulthood and causes loss of neurons in the brain's cerebellum, resulting in progressive loss of coordination (ataxia). Dr. Pulst and his colleagues traced the disease in this family to mutations in a gene called KCNC3. The gene codes for one of the proteins that form potassium channels — pore-like openings in the cell membrane that control the flow of potassium ions into the cell. The researchers found a different KCNC3 mutation in a previously identified French family with a disease called spinocerebellar ataxia type 13, which causes childhood-onset ataxia, cerebellar degeneration, and mild mental retardation.
The KCNC3 gene codes for a type of potassium channel that normally opens and closes very quickly. This type of channel is particularly important in "fast-bursting neurons" that fire hundreds of times per second in the brain. "Fast-bursting neurons are like building blocks — they are used in the nervous system a lot," Dr. Pulst says. Among other places, these neurons are found in the brain's substantia nigra, where they aid in motor control, and in the hippocampus, where they play a role in learning. Previous studies have found abnormalities in the number of potassium channels in Parkinson's, Alzheimer's, and Huntington's diseases. Together with the new study, these findings suggest that potassium channel abnormalities may contribute to a wide variety of neurodegenerative diseases.
[ ... Read the full press release ... ]
-
Anthony H. Risser | neuroscience | neuropsychology | brain
- Alzheimer's Disease
In Preventing Alzheimer’s, Mutation May Aid Drug Quest The New York Times By GINA KOLATA 11 July 2012 [snip] Two decades ago, researchers began discovering rare gene mutations that cause Alzheimer’s disease in all who inherit them. Now, they have...
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A press release from the NIH: Scientists Zero in on the Cellular Machinery that Enables Neurons to Fire If you ever had a set of Micronauts — toy robots with removable body parts — you probably had fun swapping their heads, imagining how it would...
- Neurodegenerative Diseases: Progranulin (pgrn) Mutation And Tdp-43
From a National Institutes of Health (NIH) press release on the 26th: Scientists Suggest New Pathway Causing Cell Death in Dementia Scientists have discovered a link between a mutated gene and a protein found in dead brain cells of people who suffer...
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From a 13 June 2007 press release from the University of Pennsylvania: Penn Researchers Link Cell’s Protein Recycling Systems Implications for Treating Neurodegenerative Disorders (PHILADELPHIA) – Many age-related neurological diseases are associated...
- Parkinson Disease
From an NIH press release on 04 July 2006: Dopamine Drug Leads to New Neurons and Recovery of Function in Rat Model of Parkinson's Disease In preliminary results, researchers have shown that a drug which mimics the effects of...