Mutation News and Research

RSS

PD0325901 drug may hold potential to prevent neurofibromatosis 1 in children

A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests.

31 Aug 2012

Chronic nerve pain: an interview with Professor Sally Lawson

Chronic nerve pain results from pathological changes within a nerve that appear to be self-sustaining and thus the pain continues for a long time.

30 Aug 2012

Stowers investigators define factors that regulate size of cellular fat pools

As the national waistline expands, so do pools of intra-cellular fat known as lipid droplets. Although most of us wish our lipid droplets would vanish, they represent a cellular paradox: on the one hand droplets play beneficial roles by corralling fat into non-toxic organelles. On the other, oversized lipid droplets are associated with obesity and its associated health hazards.

30 Aug 2012

Genetic investigation of tribes may explain why East Asians have lower skin cancer rates

Genetic investigation of a Malaysian tribe may tell scientists why East Asians have light skin but lower skin cancer rates than Europeans, according to a team of international researchers. Understanding the differences could lead to a better way to protect people from skin cancer.

29 Aug 2012

Cyclin D3 protein regulates size and quantity of RBCs

The adult human circulatory system contains between 20 and 30 trillion red blood cells (RBCs), the precise size and number of which can vary from person to person. Some people may have fewer, but larger RBCs, while others may have a larger number of smaller RBCs. Although these differences in size and number may seem inconsequential, they raise an important question: Just what controls these characteristics of RBCs?

29 Aug 2012

High doses of vitamin B3 stimulate CEBPE gene, enhance WBCs’ ability to combat staph infections

Cedars-Sinai researchers have found that a common vitamin may have the potential to provide a powerful weapon to fight certain "superbugs," antibiotic-resistant staph infections that health experts see as a threat to public health.

28 Aug 2012

ABCD4 and CblF proteins responsible for hereditary vitamin B12 deficiency

Vitamin B12 is vital for cell division, the synthesis of red blood cells and the functioning of the nervous system. Unable to produce the vitamin itself, the human body has to obtain it via animal proteins. So far it has been known that on its way into the cell vitamin B12 is absorbed by little organelles, so-called lysosomes. From there, the vitamin enters the cell interior with the aid of the transport protein CblF, which was discovered by the same research team three years ago.

28 Aug 2012

Nicotinamide may combat antibiotic-resistance staph infections

A new study suggests that nicotinamide, more commonly known as vitamin B3, may be able to combat some of the antibiotic-resistance staph infections that are increasingly common around the world, have killed thousands and can pose a significant threat to public health.

28 Aug 2012

Healthy intake of micronutrients may boost sperm DNA quality in older men

A new study led by scientists from the U.S. Department of Energy's Lawrence Berkeley National Laboratory (Berkeley Lab) found that a healthy intake of micronutrients is strongly associated with improved sperm DNA quality in older men.

27 Aug 2012

Profilin-1 gene influences survival time in Lou Gehrig's disease

A team of scientists, including faculty at the University of Massachusetts Medical School (UMMS), have discovered a gene that influences survival time in amyotrophic lateral sclerosis (ALS, also known as Lou Gehrig's disease).

27 Aug 2012

Researchers discover new genetic disease related to vitamin B12 deficiency

Vitamin B12 is essential to human health. However, some people have inherited conditions that leave them unable to process vitamin B12. As a result they are prone to serious health problems, including developmental delay, psychosis, stroke and dementia. An international research team recently discovered a new genetic disease related to vitamin B12 deficiency by identifying a gene that is vital to the transport of vitamin into the cells of the body.

27 Aug 2012

Personalized colon cancer therapy based on genetics of specific cancer

University of Minnesota Medical School and Masonic Cancer Center researchers have partnered with geneticists from Genentech, Inc., to discover how some proteins may cause the development of some forms of colon cancers.

24 Aug 2012

HIV-like immunodeficiency observed in Asia

Researchers have discovered an adult-onset immunodeficiency syndrome with symptoms similar to those of advanced HIV in Thailand and Taiwan.

24 Aug 2012

Scientists develop reliable method to convert adult blood cells into iPSCs

Johns Hopkins scientists have developed a reliable method to turn the clock back on blood cells, restoring them to a primitive stem cell state from which they can then develop into any other type of cell in the body.

24 Aug 2012

Researchers deciphered function of claudin-10 gene in the kidney

Sodium chloride, better known as salt, is vital for the organism, and the kidneys play a crucial role in the regulation of sodium balance. However, the underlying mechanisms of sodium balance are not yet completely understood.

24 Aug 2012

GlcNAc plays a key role in keeping cancerous monsters ‘fed’

Behaving something like ravenous monsters, tumors need plentiful supplies of cellular building blocks such as amino acids and nucleotides in order to keep growing at a rapid pace and survive under harsh conditions. How such tumors meet these burgeoning demands has not been fully understood.

24 Aug 2012

MOZ protein could explain variations in severity of DiGeorge syndrome

The discovery of a 'switch' that modifies a gene known to be essential for normal heart development could explain variations in the severity of birth defects in children with DiGeorge syndrome.

24 Aug 2012

S45F mutation may offer identifiable risk factor in recurrent pediatric aggressive fibromatosis

In the case of aggressive fibromatosis, the good news is that it is a slow-growing benign tumor. The bad news is that this abdominal tumor often recurs after surgical removal. This is particularly true among children. While headway has been made in isolating causes of this recurrence in adults, it is less clear in children.

23 Aug 2012

Laminin-111 protein therapy could treat Duchenne muscular dystrophy

A novel treatment in development at the University of Nevada School of Medicine for the most common form of muscular dystrophy is advancing towards human trials with a $308,000 boost from the Muscular Dystrophy Association.

23 Aug 2012

New MMV framework to evaluate risk of resistance for antimalarials

Medicines for Malaria Venture has developed a framework to evaluate the risk of resistance for the antimalarial compounds in its portfolio. A paper based on this work: A framework for assessing the risk of resistance for antimalarials in development has been published in the Malaria Journal today.

23 Aug 2012