Navigation Links
A finding that could help Alpha-1 sufferers breathe more easily
Date:12/13/2012

Scientists have identified a new mutation in the gene that causes the inherited disease known as Alpha-1 Antitrypsin Deficiency (Alpha-1), which affects roughly one in 2,500 people of European descent.

Alpha-1 can lead to serious lung disease in adults, or liver disease at any age.

The finding extends understanding of Alpha-1 at the molecular level, potentially leading to new drug development and better diagnostic tools.

Dr Darren Saunders from Sydney's Garvan Institute of Medical Research and Professor Vanessa Hayes, from the J. Craig Venter Institute in San Diego, published their results in the international journal PLOS One, now online.

In healthy people, Alpha-1 Antitrypsin is a molecule, or 'protein', made in the liver then secreted into the blood. It helps keep the lungs healthy by blocking an enzyme that causes tissue breakdown.

The genetic mutations that trigger Alpha-1 disease cause the Alpha-1 Antitrypsin protein to accumulate in the liver, rather than being secreted into the blood. That in turn leads to tissue breakdown in the lungs.

Alpha-1 is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD). Typically, people experience symptoms like shortness of breath, wheezing, recurrent chest colds and allergies. They might also develop unexplained liver disease.

"We're interested in the fact that the mutation we've identified occurs in a completely different part of the gene from known mutations, yet it causes the same basic effect the protein doesn't get secreted from liver cells," said Dr Saunders.

The research is still early stage, as the mutation has been identified in only one patient, and that patient is from a Middle-Eastern background.

"We have yet to establish the mutation's prevalence, and we can't do that until we have the funding to examine a wider population of patients."

"At the basic science level, it's a promising breakthrough because it helps us better understand how the protein misbehaves when it's mutated and that's very important for drug development, because drugs have to try and minimise, or reverse, molecular damage."

"If the mutation turns out to be prevalent, then its inclusion in diagnostic tests will be important."


'/>"/>

Contact: Iris Hui
iris.hui@researchaustralia.org
61-292-958-545
Research Australia
Source:Eurekalert

Related medicine news :

1. New findings in breast cancer
2. Kessler Foundation scientists present cognitive research findings at MS dual symposium
3. Researchers present new findings for novel pancreatic cancer vaccine
4. Mayo Clinic urologists present findings at American Urological Association Annual Meeting
5. Finding ways to feed pigs for less
6. Once-Banned Bird Flu Study Yields Sobering Findings
7. Columbus Allergist Dr. Summit Shah Discusses Recent Findings on Food Allergies and Exercise-Induced Anaphylaxis
8. Finding brings scientists 1 step closer to Parkinsons drug
9. Relief for Migraine Sufferers as The Life House Offers New Findings, Free Consults
10. New findings by GW researcher break tanning misconceptions: There is no such thing as a safe tan
11. MRI findings shed light on multiple sclerosis
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:4/28/2016)... ... ... reminds us that May is National Stroke Awareness Month. According to the Centers for ... the United States; someone has one every 40 seconds. Annually, almost 800,000 strokes occur ... A stroke is when blood flow to the brain is blocked or when a ...
(Date:4/28/2016)... MA (PRWEB) , ... April 28, 2016 , ... A ... were typical among 18 states studied, the Workers Compensation Research Institute (WCRI) ... The WCRI study, CompScope™ Benchmarks for Kentucky, 16th Edition , found that indemnity ...
(Date:4/28/2016)... ... April 28, 2016 , ... SyncDog, Inc. ... its leading secure mobility workstation suite, SentinelSecure™, at MobileIron’s 6th annual Mobile First ... this will be MobileIron’s 6th Mobile First Conference and will feature immersive training, ...
(Date:4/28/2016)... ... 2016 , ... For the 10,000 Americans who turn 65 on any given ... overall well-being: mental health. Now, a new book—Staying Sharp For Dummies (Paper; ISBN: 978-1-119-18779-0; ... which can include everything from honing your memory and managing stress to eating healthy ...
(Date:4/28/2016)... , ... April 28, 2016 , ... The USDA recently ... based on the latest nutritional science. While there is a lot of information available ... health, according to the April 2016 issue of Harvard Men's Health Watch . ...
Breaking Medicine News(10 mins):
(Date:4/27/2016)... April 27, 2016 Transparency Market ... Devices Market - Global Industry Analysis, Size, Share, Growth, ... report, the global skincare devices market was valued at ... expand at a CAGR of 10.1% from 2015 to ... Browse the full Skincare Devices Market (Treatment Device - ...
(Date:4/27/2016)... Shire plc (LSE: SHP, NASDAQ: SHPG ... will present at the Deutsche Bank 41st Annual Health Care ... May 04, 2016, 10:00 am EDT (15:00 BST). ... and Webcasts section of Shire,s Investor website at http://investors.shire.com/presentations-and-webcasts/ ... on this same website for approximately 90 days. ...
(Date:4/27/2016)... 27, 2016 The global  ... 2.06 billion by 2022, according to a new ... awareness towards a healthy lifestyle is expected to ...      (Logo: http://photos.prnewswire.com/prnh/20150105/723757 ) ... rising health treatment expenditure has urged consumers to ...
Breaking Medicine Technology: