genetic mutations

Oxidative stress may cause genetic mutations

harminka — Tue, 08 Sep 2009 05:52:16 -0500

A study that tracked genetic mutations through the human equivalent of about 5,000 years has demonstrated for the first time that oxidative DNA damage is a primary cause of the process of mutation - the fuel for evolution but also a leading cause of aging, cancer and other diseases.

Mutations common to cancer and developmental disorder

harminka — Mon, 22 Dec 2008 08:07:21 -0600

New research sheds light on a common link between tumor formation and Costello Syndrome, an inherited developmental disorder in which patients have cardiac defects, mild mental retardation, and face-shape abnormalities.

Man's best friend recruited in the hunt for disease genes

harminka — Fri, 17 Oct 2008 13:56:20 -0500

For centuries man has had a uniquely close relationship with dogs – as a working animal, for security and, perhaps most importantly, for companionship. Now, dogs are taking on a new role – they are helping in the hunt for genetic mutations that lead to diseases in humans.

Infection with a mutated HIV strain results in better survival

harminka — Fri, 21 Mar 2008 07:04:51 -0500

Persons infected with a mutated HIV strain, transmitted from those who have the genetic advantages to control the virus, results in improved survival according to a recent study by South African researchers. The study, published March 21st in the open-access journal PLoS Pathogens, looked for genetic mutations in the infecting virus in 24 newly infected people in Durban, South Africa.

Genetic mutations may contribute to preterm birth risk

harminka — Fri, 01 Feb 2008 12:54:24 -0600

Genetic mutations in the enzyme methylenetetrahydrofoloate reductase (MTHFR) and coagulation protein Factor V appear to have significant association with blood clots and tissue injury to the placenta and developing baby, researchers from the University of Pittsburgh’s department of obstetrics, gynecology and reproductive sciences report at the 28th annual meeting of the Society for Maternal-Fetal Medicine.

Study sheds light on human aging, inherited diseases

harminka — Fri, 05 Oct 2007 12:24:13 -0500

Microscopic worms used for scientific research are living longer despite cellular defects, a discovery that is shedding light on how the human body ages and how doctors could one day limit or reverse genetic mutations that cause inherited diseases, according to a new University of Colorado at Boulder study.

Researchers devise way to calculate rates of evolution

harminka — Fri, 05 Oct 2007 05:07:28 -0500

“Survival of the fittest” has popularly described evolution for more than a century, but a new study published in the Royal Society journal Biology Letters provides further evidence that random genetic mutations over millions of years may also play a powerful role.

Researchers dispute widely held ideas about stem cells

harminka — Wed, 29 Aug 2007 14:55:57 -0500

How do adult stem cells protect themselves from accumulating genetic mutations that can lead to cancer?

Too much or too little underlies sex abnormalities

harminka — Sat, 28 Jul 2007 01:37:44 -0500

6% of the patient population in Melbourne carries a genetic abnormality implicated in thalassemia. As well as causing blood disorders and severe mental retardation, boys with ATRX mutations have genital abnormalities.

Study Maps Road to Cure for Inherited Eye Diseases

harminka — Sat, 23 Jun 2007 08:49:54 -0500

Researchers at the University of Pennsylvania School of Medicine have identified proteins in the rod and cones of the eye that could lead to the discovery of the genetic causes of a host of inherited eye diseases. The investigators hope to gain a clearer understanding of what goes wrong at the most basic level in these diseases that cause blindness and other disorders.

Genetic mutations identified for type of gastric cancer

harminka — Mon, 04 Jun 2007 12:06:47 -0500

Researchers have identified novel genetic mutations that are linked to hereditary diffuse gastric cancer, with these mutations being due to both independent mutational events and common ancestry, according to a study in the June 6 issue of JAMA. This study is being released early to coincide with its presentation at the annual meeting of the American Society of Clinical Oncology.

Disease-causing genetic mutation reveals its molecular secrets

harminka — Fri, 23 Mar 2007 03:43:24 -0500

Pseudohypoaldosteronism type 2 (PHA2), also known as Gordon syndrome, is an inherited disease that causes high blood pressure and high levels of potassium in the blood. Recent studies have identified mutations in two genes (WNK1 and WNK4) as causes of PHA2.