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Recent News and Articles on the Keywords: gene mutation + gene mutations + lupus  Related to the article below (Last Update: 5/12/2008)

Discovery of gene mutation which causes epilepsy and mental ...
News-Medical.net, Australia -
The PCDH19 gene is found on the X chromosome, and genetic mutations on this chromosome usually only cause disease in males. Because females have two copies ...
Aust researchers discover epilespy mutant gene ABC Online
'Mutation' behind female brain disease Melbourne Herald Sun
Anglo-Australian researchers say they have found a mutated gene ... MedIndia
all 38 news articles »
Foundation grant to help Pitt study cancer-related gene
Pittsburgh Post Gazette, PA - May 11, 2008
Both men and women can carry the genetic mutations, which means they can be passed by either parent to children. Some women carrying the mutation undergo ...
How One Mutation Tips Biochemistry To Cause Alzheimer's Disease
Science Daily (press release) -
Unusual by-products of cell metabolism, clumps of protein aggregates, have been shown to have a toxic effect on brain cells and certain gene mutations have ...
60 mutations reported in beta-thalassemia patients
Khaleej Times, United Arab Emirates - May 11, 2008
The severity of the damage depends on the type of the gene mutation. In the severe form, the bone marrow expands as it attempts to keep pace with the ...
Gene mutation may explain deadly form of leukemia
Xinhua, China - Apr 14, 2008
The majority of the patients had a flawed copy of the gene, with mutations occurring in 76.2 percent of the children and 90.9 percent of the adults. ...
Caution urged in choosing gene tests
The Associated Press - May 5, 2008
Dr. David Altshuler of Harvard Medical School offers a scary example: He had a patient with a rare type of diabetes caused by a single gene mutation. ...
Gene discoveries could crack bone disease
New Scientist (subscription), UK - Apr 30, 2008
Gene mutations linked with osteoporosis have been identified independently by teams in the UK and Iceland. Earlier unsubstantiated reports have linked genes ...
Different Mutations In Single Gene Suggest Parkinson's Is ...
Science Daily (press release) - Apr 16, 2008
These latest studies bring the total of number of disease-related mutations in an as yet poorly understood gene, leucine-rich repeat kinase 2 (LRRK2), ...
p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms ...
Journal of Clinical Endocrinology and Metabolism, MD - May 7, 2008
H62L mutation was the most frequent of 60 new mutations detected in 2900 steroid 21-hydroxylase deficiency patients, either isolated or associated on the ...
Mutation In Human Gene Helps Protect Against Fatal Malaria
Science Daily (press release) - Apr 21, 2008
"Our research shows that people who have an enzyme deficiency or those who carry the gene trait for this deficiency may be protected from severe and fatal ...
Source: Google News

[PDF] Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative … -
GH Fisher, FJ Rosenberg, SE Straus, JK Dale, LA … - Cell, 1995 - actxdownload.cell.com
... Genetic cloning and mapping studies revealed that Iprwas a recessive mutation in
Fas, while gld was a mutation in the gene for Fas ligand (FasL) (Watanabe ...
-

Fas ligand mutation in a patient with systemic lupus erythematosus and lymphoproliferative disease. -
J Wu, J Wilson, J He, L Xiang, PH Schur, JD Mountz - Journal of Clinical Investigation, 1996 - pubmedcentral.nih.gov
... T, Nagao M. A rapid method for detection of mutations in the lacI gene using PCR ...
[PubMed]; Sawada S, Honda M, Niimura M. Molecular genetic analysis of the ...

… of structural gene mutations and promoter polymorphisms in the mannan-binding lectin (MBL) gene by … -
R Steffensen, S Thiel, K Varming, C Jersild, JC … - Journal of Immunological Methods, 2000 - Elsevier
... Mannose-binding protein genetic polymorphisms in black patients with systemic ...
Association of mutations in mannose binding protein gene with childhood ...

Development of lupus-like autoimmune diseases by disruption of the PD-1 gene encoding an ITIM motif- … -
H Nishimura, M Nose, H Hiai, N Minato, T Honjo - Immunity, 1999 - actxdownload.immunity.com
... for some of the lupus-prone genetic traits in ... the disease onset and severity by the
additional lpr mutation. ... indicate that the PD-1 gene deficiency predisposes ...

Prothrombin and Factor V Mutations in Women With a History of Thrombosis During Pregnancy and the … -
A Gerhardt, RE Scharf, MW Beckmann, S Struve, HG … - Obstetrical & Gynecological Survey, 2000 - obgynsurvey.com
... In addition, genetic analyses were performed detect the factor V Leiden mutation
(G1691A mutation in the factor V gene), the G20210A mutation in the ...

Increased Frequency of Genetic Thrombophilia in Women With Complications of Pregnancy. -
MJ Kupferminc, A Eldor, N Steinman, A Many, A Bar- … - Obstetrical & Gynecological Survey, 1999 - obgynsurvey.com
... have obstetric complications be tested for genetic and acquired ... or S deficiency,
anticardiolipin antibodies, or mutation factor V ... is a carrier of a gene with a ...

… of the 20210 G??? A Mutation in the 3'-Untranslated Region of the Prothrombin Gene in 35 Cases of … -
V Biousse, J Conard, C Brouzes, MH Horellou, A … - Stroke, 1998 - Am Heart Assoc
... congenital thrombophilia, including prothrombin gene polymorphism, should ... polymorphism
was the only genetic abnormality ... the factor V Leiden mutation was present ...

… primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, … -
JR Thomson, RD Machado, MW Pauciulo, NV Morgan, M … - British Medical Journal, 2000 - jmg.bmj.com
... We have searched for BMPR2 gene mutations in sporadic PPH patients to determine
whether the same genetic defect underlies the more common form of the disorder. ...

… binding lectin(MBL) gene mutation is not a risk factor for systemic lupus erythematosus(SLE) and … -
T Horiuchi, H Tsukamoto, C Morita, T Sawabe, S … - Genes and Immunity, 2000 - nature.com
... Allele Report. Mannose binding lectin (MBL) gene mutation is not a risk factor for
systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) in Japanese. ...

Analysis of Fas ligand gene mutation in patients with systemic lupus erythematosus -
T Kojima, T Horiuchi, H Nishizaka, T Sawabe, M … - Arthritis & Rheumatism, 2000 - doi.wiley.com
... was first noted on identification of the genetic defects in ... analyzed only 1 of the
4 FasL gene exons, it ... the FasL before concluding that FasL mutation is rare ...

Source: Google Scholar
 
 

Role of gene mutations causing lupus in mice identified

 
 
In two related studies, researchers at the University of Texas ( UT ) Southwestern Medical Center have pinpointed defective genes in mice responsible for triggering the mysterious autoimmune disease lupus, which prompts the body's immune system to mistakenly attack healthy organs and tissues.

A research team led by Chandra Mohan found that a defect in the Ly108 gene causes immune cells called B-cells to attack the body's healthy cells, resulting in systemic lupus erythematosus, or SLE.

The study is published in the journal Science.

Further research based on the study's findings may lead to better diagnostic tests and therapeutic drugs to help cure human lupus, said Mohan, the paper's senior author.

" If we can demonstrate that the same gene defect we described in the mouse model also causes human lupus, it would open ways to block the disease by developing therapeutics targeting pathways activated by the mutated Ly108 gene," Mohan said.

Kirthi Raman Kumar, the paper's lead author said, " This is the first demonstration of how immature B-cells from lupus-prone mice behave differently from lupus-resistant normal mice and how this difference can lead to autoimmunity."

In a separate lupus study published in the Proceedings of the National Academy of Sciences ( PNAS ), other researchers of UT Southwestern describe the role of a mutated gene called Tlr7, which interacts with Ly108 in triggering the mechanisms leading to a deadly form of lupus in mice by causing another component of the immune system to malfunction.

The research team led by Edward Wakeland explained that mice that died of lupus carried twice the normal amount of copies of the mutated receptor gene Tlr7.

" If you put both genes together, you create fatal disease – the mouse dies of the mouse version of SLE," said Wakeland, who is also a contributing author to the Science paper.

The faulty gene mechanism described by Wakeland's lab occurs in the body's basic or innate immune system, which recognizes an initial infection and responds to very generic forms of single-stranded viral RNA.

In contrast, Mohan's group explained a key mechanism in the development of lupus occurring in the adaptive immune system, which consists of cells that constantly adapt themselves to better recognize invading organisms and produce antibodies to fight them.

Both studies could yield promising targets for the development of specific drugs to treat or prevent human lupus, Mohan and Wakeland said.

Many of the current medications for lupus are drugs that were developed to treat other diseases. Such lupus medications include corticosteroids, chemotherapy drugs and the malaria drug Plaquenil.

Lupus is a chronic disease that can cause life-threatening damage to many parts of the body, including the kidneys, lungs, heart, central nervous system, joints, blood vessels and skin. It can be associated with severe fatigue, joint pain, skin rashes, hair loss and neurological problems.

Genetic predisposition, gender and race are major risk factors for lupus, which affects an estimated 270,000 to more than one million people in the United States.
Women are five times more likely to die from lupus than men, and African-Americans are three times more like to die from lupus than Caucasians, according to the Alliance for Lupus Research. It is also more common in women of Hispanic, Asian and Native-American descent.
Nine out of 10 people with lupus are women.

Source: UT Southwestern Medical Center, 2006
 
 
 
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