Navigation Links
A finding that could help Alpha-1 sufferers breathe more easily

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
Research Australia

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:
(Date:11/24/2015)... ... November 24, 2015 , ... All her life, Don Peck’s mother wondered if she was ... she might have been. After a 25-year search for information, Don and his aunt ... shared a last name. Turns out, it was Don’s father who was descended from ...
(Date:11/24/2015)... Pass, OR (PRWEB) , ... November 24, 2015 , ... ... Lose too much body water to perspiration in the hot sun, and heat stroke ... to Fresh water advocate and radio host Sharon Kleyne. Every cell, system and structure ...
(Date:11/24/2015)... ... 2015 , ... The OSHA Training Center at Chabot-Las ... in Northern California, is calling on retail employers to implement safety measures to ... volume of sales and shoppers rapidly expands, retailers are strongly encouraged to develop ...
(Date:11/24/2015)... Miami, Fl (PRWEB) , ... November 24, 2015 , ... ... Farms. Adding houseplants is an easy and affordable way to bring long-lasting style and ... “green heroes” also provide oxygen, clean the air and keep on giving all year ...
(Date:11/24/2015)... (PRWEB) , ... November 24, 2015 , ... Take the audience on a journey with ... 3D camera path through a cloud of images without ever setting a single keyframe in ... the Inspector Window. Then use the controls to change the angle and depth of field ...
Breaking Medicine News(10 mins):
(Date:11/24/2015)... Nov. 24, 2015  Ascendant Solutions, Inc. (Pink Sheets: ... Board of Directors has declared a special 1 percent stock ... is payable December 14, 2015, to shareholders of record December ... of additional shares of common stock. ... is a strong endorsement of our confidence in Ascendant,s growth ...
(Date:11/24/2015)... st  Scientific Assembly and Annual Meeting of ... taking place in Chicago on Nov-29 th ... --> st  Scientific Assembly and Annual Meeting of the Radiological ... in Chicago on Nov-29 th through ... Molecular Dynamics will present its revolutionary whole body CZT digital SPECT/CT ...
(Date:11/24/2015)... November 24, 2015 --> ... Inhibitors, MTTP Inhibitors, ApoB Inhibitors and PPAR Agonists ... to grow at the fastest rates? This visiongain ... data, trends, opportunities and prospects there. ,  ,Our 199-page ... most lucrative areas in the industry and the future ...
Breaking Medicine Technology: