How genetic mutations lead to development of Familial Alzheimer`s
Washington: A new research has solved one mystery in the development of Familial Alzheimer's Disease (FAD) - a genetic variant of the disease that affects a small fraction of the Alzheimer's population.
Rensselaer Polytechnic Institute researcher Chunyu Wang and his team follow the trail of two genetic mutations - V44M and V44A - known to cause FAD, and show how the mutations lead to biochemical changes long linked to the disease.
The hallmark of FAD is the accumulation of the Amyloid Beta 42 peptide (a short chain of amino acids) in unusually high concentrations within the brain.
In a healthy brain, Amyloid Beta-42 and a similar peptide, Amyloid Beta-40, are found in a ratio of about 1 to 9.
In a brain affected by FAD, this ratio is much higher. The two peptides are nearly identical: Amyloid Beta 40 is a chain of 40 amino acids in length; Amyloid Beta 42 is 42 amino acids in length. However, Amyloid Beta 42 is much more toxic to neurons and plays a critical role in memory failure.
"The mutations that cause FAD lead to an increased ratio of Amyloid Beta 42 over Amyloid Beta 40," Wang, an associate professor of biological sciences within the School of Science, director of the biochemistry and biophysics graduate program, and member of the Rensselaer Center for Biotechnology and Interdisciplinary Studies, said.
"That's the biochemistry, and that has been observed by many people," Wand said.
Wang's team used solution nuclear magnetic resonance spectroscopy to study the three-dimensional structure and dynamics of the transmembrane portion of APP affected by the two genetic mutations, and they discovered that the mutations cause a critical change to the T48 amino acid.
The study is published in the journal Nature Communications.
More from India
More from World
More from Sports
More from Entertaiment
- Rajinikanth's 'Kabali' releases early morning at 6 am in Mumbai!
- Jharkhand: Zee Media honors ten environmentalists with Green Warrior Award
- DNA: Why nationalist reporting trigger protest in Gurez valley?
- DNA: Why nationalist reporting trigger protest in Gurez valley? - Part II
- DNA: Why nationalist reporting trigger protest in Gurez valley? - Part III
- Gujarat Dalit protest: After Rahul, Kejriwal to visit violence-hit Una today
- PM Narendra Modi to lay foundation stone of AIIMS in Gorakhpur today
- Rajya Sabha to vote on bill seeking 'special status' for Andhra Pradesh today
- 'Bunty Chor' - Delhi's high-end car thief arrested; BMW, Toyota Fortuner recovered
- Mayawati slur: Dayashankar Singh may surrender today; wife alleges harassment by BSP goons