HOME >> BIOLOGY >> NEWS
Gene that causes familial British dementia may yield clues to Alzheimer's disease

Researchers supported by the National Institute on Aging (NIA) have discovered a novel gene, which when mutated is responsible for familial British dementia (FBD), a rare inherited disease that causes progressive dementia like that seen in patients with Alzheimer's disease (AD) and severe movement disorders. This finding provides an exciting new clue to abnormal changes in the brain that lead to dementia.

FBD, previously called familial cerebral amyloid angiopathy, was first reported in the 1940s. This autosomal dominant disorder has since been described in a large British family of more than 300 members spanning 9 generations. The most common symptoms of this devastating disease -- which usually develops in patients in their 40s and 50s -- are dementia and spasticity. A distinct feature of FBD is the development of Alzheimer's disease-like dementia instead of stroke, which is common in other inherited forms of cerebral angiopathy.

Researchers at the New York University School of Medicine in collaboration with scientists at the National Hospital for Neurology and Neurosurgery and the Institute of Neurology, both in London, England, discovered a novel gene, BRI, located on chromo-some 13. A point mutation at the stop codon of this gene results in the production of a longer-than-normal BRI precursor protein. A peptide (ABri peptide) snipped from the mutated end of the BRI precursor protein is deposited as amyloid fibrils, which are thought to contribute to neuronal dysfunction and dementia. The research is reported in the June 24, 1999, issue of Nature (Vidal, R; Frangione, B; Rostagno, A; Mead, S; Revesz, T; Plant, G and Ghiso, J "A stop-codon mutation in the BRI gene associated with familial British dementia," Nature June 24, 1999).

The research group identified the mutated gene in a female FBD family member, who developed the disease at age 56 and died at age 65. They also found the mutation in 7 affected FBD family members, but not in unaff
'"/>

Contact: Karen Poncinki/Stephanie Clipper
clippers@exmur.nia.nih.gov
301-496-1752
NIH/National Institute on Aging
23-Jun-1999


Page: 1 2 3

Related biology news :

1. Cigarette smoke causes breaks in DNA and defects to a cells chromosomes, Pitt study finds
2. Pollutant causes delayed flowering in plants
3. Disruption of protein-folding causes neurodegeneration, mental retardation
4. Researchers discover why mutant gene causes colon cancer
5. Analysis fingers causes of desertification
6. Vioxx in high doses causes hypertension
7. Gene mutation causes progressive changes to cell structure in children with Progeria
8. Late invasion of infected cells into the brain causes HIV dementia say Temple researchers
9. Fat cell hormone causes weight loss
10. Lack of specific brain protein causes marked deficits in learning, memory
11. UIC researchers discover gene that causes liver cancer in animals

Post Your Comments:
(Date:4/22/2014)... to Asia to coordinate with allies and reconfirm ... the Office of Naval Research (ONR) emphasized today ... an example of strong and growing ties between ... region. , The APTEP program, centered in Hawaii ... development of alternative energy technologies. It takes a ...
(Date:4/22/2014)... French . ... the complete genome and subsequent phylogenetic analysis show that ... that is distinct from strains previously identified in the ... also linked the laboratory confirmed cases with the initial ... virus is a lethal, highly contagious virus for which ...
(Date:4/22/2014)... that exposure to environmental enrichment can induce ... learning and memory. Previous studies have demonstrated ... the superficial layer of the cerebral cortex ... and these neurons exhibit very weak properties ... Whether environmental enrichment has an impact on ...
Breaking Biology News(10 mins):Full power: Alternative energy partnerships flourish in Asia 2Full power: Alternative energy partnerships flourish in Asia 3Inserm and the Institut Pasteur identify a new variant of Ebola virus in Guinea 2
(Date:1/14/2014)... Jan. 14, 2014 As pet owners drew up their lists ... them wrote: "Take better care of my furry companion." Nowadays there ... and top-brand carrying cases to take the little canine or feline ... feel compelled to buy some pricey toys at the pet store. ...
(Date:1/14/2014)... and BETHESDA, Md. , Jan. 14, ... with two institutes from the National Institutes of Health ... bringing safer, more effective treatments to patients on a ... for Advancing Translational Sciences (NCATS) and the National Eye ...
(Date:1/14/2014)... 2014  RXi Pharmaceuticals Corporation (OTCQX: RXII), a biotechnology ... therapies addressing major unmet medical needs using RNA-targeted ... of Allowance from the United States Patent and ... (sd-rxRNA®), for the treatment of fibrosis. The patent ...
(Date:1/14/2014)... USA, and Cardiff, UK (PRWEB) January 13, 2014 ... technology development leader with more than 20 years in ... for optics and photonics . Hainsey will serve as ... delighted to have Dr. Hainsey join SPIE as our ...
Breaking Biology Technology:New Year's Resolution: Give Pets the Gift of Top-Notch Health Care 2Organovo Announces Collaboration with National Institutes of Health 2Organovo Announces Collaboration with National Institutes of Health 3RXi Pharmaceuticals Receives US Notice of Allowance for a Key Patent Relating to its Self-Delivering Technology with sd-rxRNAs targeting CTGF, including RXI-109, for the Treatment of Fibrotic Disorders 2RXi Pharmaceuticals Receives US Notice of Allowance for a Key Patent Relating to its Self-Delivering Technology with sd-rxRNAs targeting CTGF, including RXI-109, for the Treatment of Fibrotic Disorders 3Photonics R&D Leader Bob Hainsey Joins SPIE Technical Staff 2
Cached News: