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New sequencing approach can provide more effective method of BRCA1/2 mutational analysis

Individuals with mutations in BRCA1 and BRCA2 genes have a significantly higher risk of developing breast and ovarian cancers. Families at risk have been seeking genetic testing and counseling based on their mutation carrier status, but the standard method of direct sequencing is labor-intensive, costly, and it only targets a part of the BRCA1 and BRCA2 genes.

6 Aug 2012

Researchers identify six genes with driving mutations in melanoma

It's been a burning question in melanoma research: Tumor cells are full of ultraviolet (UV)-induced genetic damage caused by sunlight exposure, but which mutations drive this cancer? None have been conclusively tied to melanoma. The sheer abundance of these passenger mutations has obscured the search for genetic driver mutations that actually matter in melanoma development and progression.

20 Jul 2012

MicroRNA-3151 a new independent prognostic marker for acute leukemia

A study has identified microRNA-3151 as a new independent prognostic marker in certain patients with acute leukemia. The study involves patients with acute myeloid leukemia and normal-looking chromosomes.

15 May 2012

Gene function preserved despite structural differences in the DNA

Chloroplasts, the plant cell's green solar power generators, were once living beings in their own right. This changed about one billion years ago, when they were swallowed up but not digested by larger cells. Since then, they have lost much of their autonomy.

16 Apr 2012

Study describes how multiple RNA binding proteins cooperatively control genetic splicing code

Understanding how RNA binding proteins control the genetic splicing code is fundamental to human biology and disease - much like editing film can change a movie scene. Abnormal variations in splicing are often implicated in cancer and genetic neurodegenerative disorders.

17 Feb 2012

Defect in neuronal RNA splicing process may contribute to neurological disease

A Jackson Laboratory research team led by Professor and Howard Hughes Medical Investigator Susan Ackerman, Ph.D., has discovered a defect in the RNA splicing process in neurons that may contribute to neurological disease.

20 Jan 2012

DNA sequencing identifies new altered genes that drive CLL

The most comprehensive search to date of DNA abnormalities in chronic lymphocytic leukemia (CLL) has unearthed several new altered genes that drive this common blood cancer, a finding that could potentially help doctors predict whether an individual patient's disease will progress rapidly or remain indolent for years, say scientists from Dana-Farber Cancer Institute and the Broad Institute.

13 Dec 2011

Study: Genes that are active in brain are transcribed with special mechanism

Knowledge about the development of the nervous system is of the greatest importance for us to understand the function of the brain and brain disorders. Researchers at Uppsala University have examined the key step when genes are read and found that genes that are active in the brain are transcribed with a special mechanism.

8 Nov 2011

Cancer cells maintain rapid proliferation due to PK-M2 enzyme

Cancer cells maintain their life-style of extremely rapid growth and proliferation thanks to an enzyme called PK-M2 (pyruvate kinase M2) that alters the cells' ability to metabolize glucose - a phenomenon known as the Warburg effect.

3 Nov 2011

Rsearchers define new step that controls programmed cell death in cancer cells

When cells find themselves in a tight spot, the cell cycle regulator p21 halts the cell cycle, buying cells time to repair the damage, or if all else fails, to initiate programmed cell death.

2 Apr 2011

Loss of SKIP sensitizes cancer cells to apoptotic effects of DNA damage-inducing anticancer drugs

When cells find themselves in a tight spot, the cell cycle regulator p21 halts the cell cycle, buying cells time to repair the damage, or if all else fails, to initiate programmed cell death. In contrast to other stress-induced genes, which dispense with the regular transcriptional entourage, p21Cip1 still requires SKIP, a transcription elongation factor that also helps with the editing of transcripts, to be expressed, found researchers at the Salk Institute for Biological Studies.

2 Apr 2011

Scientists detail role of TDP-43 in ALS pathology

Amyotrophic lateral sclerosis, known as ALS or more popularly, Lou Gehrig's disease, is a notorious neurodegenerative condition characterized by the progressive deterioration of brain and spinal cord neurons, resulting in the gradual but catastrophic loss of muscle control and ultimately, death.

5 Mar 2011

Whites with mutations more likely to be susceptible to cocaine abuse

Nearly one in five whites could carry a genetic variant that substantially increases their odds of being susceptible to severe cocaine abuse, according to new research.

21 Dec 2010

Researchers document novel form of splicing in nerve cell cytoplasm

Cells have their own version of the cut-and-paste editing function called splicing. Researchers at the University of Pennsylvania School of Medicine have documented a novel form of splicing in the cytoplasm of a nerve cell, which dictates a special form of a potassium channel protein in the outer membrane.

19 Nov 2010

New genetic analysis technique isolates culprit gene in families with inherited single-gene kidney diseases

A University of Michigan-led research team has identified a gene responsible in some families for a devastating inherited kidney disorder, thanks to a new, faster method of genetic analysis not available even two years ago. The success offers hope that scientists can speed the painstaking search for the genes responsible for many rare diseases and test drugs to treat them.

17 Sep 2010

CSHL scientists reverse symptoms of Type III SMA using ASOs

The devastating, currently incurable motor-neuron disease spinal muscular atrophy might soon be treated with tiny, chemically modified pieces of RNA called antisense oligonucleotides.

13 Jul 2010

An innovative genetic prediction algorithm

A University of Toledo doctoral candidate in biomedical sciences recently combined the inspiration he received from his grandfather, values learned from his mother, insights gleaned from his mentors and processing power tapped from a supercomputer to unlock a few of the many secrets of the human genome.

29 Jun 2010

Study: Warburg effect promotes rapid cell proliferation and tumor growth

A team of scientists led by Professor Adrian Krainer, Ph.D., of Cold Spring Harbor Laboratory has discovered molecular factors in cancer cells that boost the production of an enzyme that helps alter the cells' glucose metabolism. The altered metabolic state, called the Warburg effect, promotes extremely rapid cell proliferation and tumor growth. Adrian Krainer, Ph.D.

23 Jan 2010

Tel Aviv University researchers unravel the mysteries of DNA packaging

The RNA "spools" that make up DNA in our genes need careful editing, too. Genes are composed of meaningful sequences, called exons, separated by meaningless junk sections called introns.

15 Dec 2009

From the works of Shakespeare to the genomes of viruses

What does uncovering the true authorship of plays attributed to Shakespeare have to do with identifying our genetic ancestors or classifying new life forms?

11 Feb 2009