Gene Linked to Alzheimers Disease Plays Key Role in Cell Survival

Scientists have discovered that a gene linked to Alzheimer’s disease may play a beneficial role in cell survival by enabling neurons to clear away toxic proteins. A study funded by the National Institute on Aging (NIA), part of the National Institutes of Health, shows the presenilin 1 (PS1) gene is essential to the function of lysosomes, the cell component that digests and recycles unwanted proteins. However, mutations in the PS1 gene — a known risk factor for a rare, early onset form of Alzheimer’s disease – disrupt this crucial process.

Ralph Nixon, M.D., Ph.D., of the Nathan Kline Institute, Orangeburg, N.Y., and New York University Langone Medical Center, directed the study involving researchers from the United States, Europe, Japan and Canada. Also supported in part by the Alzheimer’s Association, the study appears in the June 10, 2010, online issue of Cell.

Researchers have theorized for more than a decade that PS1 mutations linked to early-onset Alzheimer’s, a rare form of the disease that usually affects people between ages 30 and 60, may trigger abnormally high levels of beta-amyloid protein to clump together in the brain.

Amyloid deposits and tau protein tangles are hallmarks of both early-onset and the sporadic, more common form of the disease found in people aged 60 and older. These new findings, however, suggest PS1 mutations may play a more general role in the development of early-onset Alzheimer’s.

The 2010 NF Conference – Connecting the Public with the Research

Neurofibromatosis (NF) encompasses a set of genetic disorders that cause benign and malignant tumors to grow along various types of nerves; it can also affect the development of bones and skin. There are three main types of NF tumors: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis. NF1 is the most frequent of the three; one in every 3,000 children is born with the disease.

The Children’s Tumor Foundation (CTF) is the leading non-governmental funder of scientific research into neurofibromatosis and has funded NF studies for over 25 years. Their goal is to identify NF drug therapies and improve the lives of those living with the disorder. The Foundation also endeavors to increase public awareness of NF and provides resources for NF patients and their families.

2010 NF Conference

Is Junk Food Addictive?

ResearchBlogging.org

In a recent paper in Nature Neuroscience, two researchers at the Scripps Research Institute in Florida report that obese rats with extended access to what they deemed “palatable food” — bacon, sausage, cheesecake, pound cake, frosting and chocolate — exhibited compulsive like eating behavior, much like rats with extended access to cocaine or heroin [1]. This compulsive eating meant that they continued eating despite negative ramifications, in this case a flash of light signaling an oncoming electric shock administered to their foot. This lack of control over behavior with known negative consequences is a hallmark of both drug addiction and obesity. The investigators found that just like drug addicted rats, these obese rats had fewer striatal (a region of the forebrain) dopamine D2 receptors; this is responsible for the observed dampening of their neural reward responses to the food, which caused them to continue to eat, seeking that elusive high.

10 Things to be Aware of on NF Awareness Day

May is NF Awareness Month, and in a particular effort to help get the word out about NF, today — Thursday, May 20th — is NF Awareness Day.

NF Awareness Day

Neurofibromatosis (NF) is a genetically inherited disorder that predisposes individuals to the development of a variety of benign and malignant tumors in the central and peripheral nervious systems. The disorder affects neural crest cells and causes tumors to grow along various types of nerves and can also affect the development of bones and skin.

Neural crest cells: specialized cells that contribute to the formation of multiple tissues, including sensory nerves, the enteric nervous system that controls the gut, pigment cells of the skin, various skeletal and connective tissue of the head, and part of the valves and blood vessels of the heart. During early development, neural crest cells — a transient, multipotent cell population — migrate to many different locations and differentiate into many cell types within the embryo.

The Children’s Tumor Foundation (CTF) is the leading non-governmental funder of scientific research into neurofibromatosis. The CTF has funded NF research for over 25 years with the goal of identifying NF drug therapies and improving the lives of those living with the disorder. The Foundation also endeavors to increase public awareness of NF and provides resources for NF patients and their families. Straight from the CTF, here are ten things to be aware of about NF:

Information on Gum Disease Now Available on NIHSeniorHealth.gov

Good oral health is key to quality of life. When your mouth is healthy, you can eat the foods you need for good nutrition and can feel better about smiling, talking, and laughing. However, periodontal (gum) disease — an infection of the gums and tissues that hold teeth in place — can harm oral health and is a leading cause of tooth loss among older adults. Because it’s an important topic for seniors, a section on gum disease has just been added to NIHSeniorHealth.gov. It’s the premier health and wellness website for older adults developed by the National Institute on Aging (NIA) and the National Library of Medicine (NLM), both part of the National Institutes of Health.

“The new periodontal disease section on NIHSeniorHealth.gov is an excellent source of easy-to-understand information that will help older people learn about periodontal disease and how they can prevent it,” said Lawrence A. Tabak, D.D.S., Ph.D., director of NIH’s National Institute of Dental and Craniofacial Research. “Periodontal disease does not have to be a part of aging. Proper dental hygiene and regular dental visits can help people reduce their chance of developing periodontal disease as they age.”