Confocal image of an Alzheimer’s brain showing region of amyloid plaque. Courtesy of Wellcome Images. 
Understanding a Protein’s Role in Familial Alzheimer’s DiseaseNovel genomic approach reveals gene mutation isn’t simple answer
Researchers at the University of California, San Diego School of Medicine have used genetic engineering of human induced pluripotent stem cells to specifically and precisely parse the roles of a key mutated protein in causing familial Alzheimer’s disease (AD), discovering that simple loss-of-function does not contribute to the inherited form of the neurodegenerative disorder.
The findings, published online in the journal Cell Reports, could help elucidate the still-mysterious mechanisms of Alzheimer’s disease and better inform development of effective drugs, said principal investigator Lawrence Goldstein, PhD, professor in the Departments of Cellular and Molecular Medicine and Neurosciences and director of the UC San Diego Stem Cell Program.
“In some ways, this is a powerful technical demonstration of the promise of stem cells and genomics research in better understanding and ultimately treating AD,” said Goldstein, who is also director of the new Sanford Stem Cell Clinical Center at UC San Diego. “We were able to identify and assign precise limits on how a mutation works in familial AD. That’s an important step in advancing the science, in finding drugs and treatments that can slow, maybe reverse, the disease’s devastating effects.”
Familial AD is a subset of early-onset Alzheimer’s disease that is caused by inherited gene mutations. Most cases of Alzheimer’s disease – there are an estimated 5.2 million Americans with AD – are sporadic and do not have a precise known cause, though age is a primary risk factor.    
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Confocal image of an Alzheimer’s brain showing region of amyloid plaque. Courtesy of Wellcome Images.

Understanding a Protein’s Role in Familial Alzheimer’s Disease
Novel genomic approach reveals gene mutation isn’t simple answer

Researchers at the University of California, San Diego School of Medicine have used genetic engineering of human induced pluripotent stem cells to specifically and precisely parse the roles of a key mutated protein in causing familial Alzheimer’s disease (AD), discovering that simple loss-of-function does not contribute to the inherited form of the neurodegenerative disorder.

The findings, published online in the journal Cell Reports, could help elucidate the still-mysterious mechanisms of Alzheimer’s disease and better inform development of effective drugs, said principal investigator Lawrence Goldstein, PhD, professor in the Departments of Cellular and Molecular Medicine and Neurosciences and director of the UC San Diego Stem Cell Program.

“In some ways, this is a powerful technical demonstration of the promise of stem cells and genomics research in better understanding and ultimately treating AD,” said Goldstein, who is also director of the new Sanford Stem Cell Clinical Center at UC San Diego. “We were able to identify and assign precise limits on how a mutation works in familial AD. That’s an important step in advancing the science, in finding drugs and treatments that can slow, maybe reverse, the disease’s devastating effects.”

Familial AD is a subset of early-onset Alzheimer’s disease that is caused by inherited gene mutations. Most cases of Alzheimer’s disease – there are an estimated 5.2 million Americans with AD – are sporadic and do not have a precise known cause, though age is a primary risk factor.   

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Notes

  1. lunarmystery reblogged this from ucsdhealthsciences
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  4. nealcassadysghost reblogged this from ucsdhealthsciences and added:
    That kinda sounds like bad news.
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  6. undertravelled reblogged this from neurosciencestuff
  7. dcy3 reblogged this from neurosciencestuff
  8. liebs0990 reblogged this from neurosciencestuff and added:
    Ohh yeah, lets continue to not use stem-cells, real smart idea. Doctors and researchers alike seriously lack accurate...
  9. midwayuponthisjourney reblogged this from neurosciencestuff
  10. msvicky431 reblogged this from neurosciencestuff and added:
    And here in sunny San Diego!!!❤️
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  19. mrbudz reblogged this from neurosciencestuff and added:
    Some cool facts

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