Your Genes, Your Health Blog

Could taking a nutritional supplement keep you young?

jwatkins — Wed, 14 Jul 2010 19:14:34 +0000

It might be more real than not. Scientists working at the biotech giant Geron Corporation have isolate a molecule, TA-65, which has the ability to increase telomerase activity (It is important to note that his find has not been evaluated in published peer reviewed studies as of yet). This is an exciting breakthrough for telomerase is an enzyme that adds DNA sequence repeats to the 3′ end of DNA strands in the telomere regions, which are found at the ends of eukaryotic chromosomes. The telomeres contain condensed DNA material, giving stability to the chromosomes. These telomere DNA sequences shorten with every cell division thereby leading to the eventual aging of cells. Geron Corporation may have found the elixir of life.
Geron licensed the product as a nutritional supplement to bypass FDA approval. In 2007 a number of physicians have sold TA-65 pills and patients have reported enhanced athletic, visual, and cognitive performance. In order to give backing to these claims research showing TA-65 effects on density, immune function, and age-related biomarkers will be submitted for peer-reviewed publication this year. Geron is on the move, not only is the company on the cutting edge sustaining youth, they have another telomere therapy that promises to fight cancer, lets definitely keep an eye out on that one.

HIV halts brain disease

jwatkins — Wed, 17 Mar 2010 15:29:54 +0000

Adrenoleukodystrophy is a rare inherited disorder identified in patients with a defective gene that produces a protein called ALD; which leads to progressive brain damage. ALD is a transporter required for the break down fats. Defects in ALD lead to the build up of fats and the eventual damage of the myelin sheath that protects nerves. For many years the only treatment for this has been bone marrow transplants, which is limited in the availability of donors and let us not forget the number of complications that could arise.

A new treatment has shown itself in the form of gene therapy. Bone marrow cells can be treated with a modified and inactivated HIV virus carrying the correct message for the ALD gene and infused back into patients with adrenoleukodystrophy. The blood cells with the correct message would then be carried to the brain where ALD will be produced and utilized to improve the disease. At present HIV is the only virus that can deliver a therapeutic gene into the nucleus of non-dividing cells. Who would have thought that HIV virus could have a positive side?

Getting an edge on breast cancer

jwatkins — Wed, 03 Feb 2010 12:24:55 +0000

Cancer is a life threatening disease characterized by uncontrolled growth of cells coupled with malignant behavior. The causes leading to cancer are believed to be genetic, environmental, or a combination of the two. Chemotherapy is one of a number of treatments for cancer. It utilizes a regiment of chemicals toimpair cell division and/or induce programmed cell death.

Research carried out by Dr Yang Li and colleagues at Harvard Medical School, the Technical University of Denmark, and the Université Libre de Bruxelles, have highlighted two genes – LAPTM4B and YWHAZ – that may inhibit the response of anthracycline-based adjuvant chemotherapy for breast cancer. The group found that patients who have a high expression of the genes show a reduced sensitivity to anthracycline-based adjuvant chemotherapy (though they remain somewhat susceptible). Conversely, patients with these genes switched off, showed a heightened sensitivity to the chemotherapy.

This breakthrough will allow doctors to take our clinical treatments to next level – personalized medicine. Genetic profiles of patients and of specific cancers will enable doctors to selectively determine chemotherapy regimes with the most potential for preventing relapse. A continued effort will have to be made to decipher how these two genes block the action of anthracycline-based adjuvant chemotherapy.

Reference:
1. http://www.nhs.uk/news/2010/01January/Pages/Genes-affect-cancer-treatment.aspx

Mixed-up Nomenclature?

hilgert — Wed, 20 Jan 2010 14:59:19 +0000

An article in the December 24, 2009 issue of Molecular Cell, “A Reconfigured Pattern of MLL Occupancy within Mitotic Chromatin Promotes Rapid Transcriptional Reactivation Following Mitotic Exit,” had me thinking how misleading genes and proteins are often named. The publication details the function of a protein, Mixed Leukemia Lineage (MLL), which attaches to DNA prior to cell division. MLL “bookmarks” genes that need to be expressed immediately after the cell divides. The protein’s function is not, however, to cause leukemia. Its name – Mixed Lineage Leukemia – rather reflects the story of its discovery as it was found during research into the causes of leukemia.

MLL is not a nasty leukemia-causing protein. In fact, it is just the opposite. Cell division is somewhat like moving into a new apartment – all the DNA is still neatly packaged into moving boxes. By labeling genes immediately after division, MLL helps avoid potential errors in the operation of new cell. Comparing cell division to Moving Day – all the DNA is still neatly packaged into moving boxes – it may become clear that labeling genes that are needed immediately may be a helpful trait to avoid hick-ups in a new cell’s operation. Just like labeling the moving box with the shampoo and the slippers might allow us to function efficiently at the evening of Moving Day. Just saying…

Elucidating MLL’s function adds to our knowledge about how information is being passed from one generation to the next. Mechanisms such as this operate on top of the genetic code and belong to a cell’s arsenal of epigenetics tricks. MLL confers information by sitting on genes that need to be activated, making sure the cell finds them quickly.

Mutated forms of MLL, however, can cause leukemia (among a slew of other troubles). Check out the story about another gene involved in chronic myeloid leukemia in Genes and Medicine at http://www.dnai.org/d/index.html.

Surving Using Survivin

jwatkins — Wed, 06 Jan 2010 20:47:29 +0000

The fourth most common and second leading cause of cancer-related death around the world is gastric cancer. It is estimated that the world standardized incidence of gastric cancer is about 16.2/100,000 persons per year. The only prognosis method for gastric cancer is the International Union Against Cancer Tumor-Node-Metastasis (TMN) staging system, in which the degree of tumor penetration and nodal status are the two main prognostic indicators in patients without distant metastatic disease. It turns out that surgery is an option for early stage patients, but 50% of gastric cancer patients suffer from tumor relapse even after radical surgery. Hence, the current staging system does not seem to accurately predict individual patient risk of cancer recurrence.

A study performed by Bertazza et al. (2009), observed the expression of circulating tumor cell-related genes as a prognostic aid to the TNM staging system in gastric carcinoma patients. In the study they examined a total of 70 patients ranging from stage I to IV TNM gastric carcinoma. Quantitative real-time PCR was utilized to identify the expression of four circulating tumor cell-related genes from peripheral blood samples. These genes are carcinoembryonic antigen (CEA), cytokeratin-19 (CK19), vascular endothelial growth factor (VEGF) and Survivin (BIRC5). It was revealed that expression of Survivin, CK19, CEA and VEGF were higher than in normal controls, with Survivin and CK19 having the highest differential expression 98.6% and 97.1% respectively.

Survival analysis TNM staging and Survivin mRNA levels in the peripheral blood were retained as independent prognostic factors. In the end, Survivin proved to add influential prognostic information to the TMN staging system data to better treat gastric carcinoma patients.

Reference:
Survivin gene levels in the peripheral blood of patients with gastric cancer independently predict survival, Loris Bertazza, Simone Mocellin, Alberto Marchet, Pierluigi Pilati, Joseph Gabrieli, Romano Scalerta and Donato Nitti Journal of Translational Medicine December 22 2009, 7:111doi:10.1186/1479-5876-7-111

Note: Image for this blog is from http://www.medindia.net/patients/PatientInfo/Images/stomach-cancer.gif

Fighting Obesity…

jwatkins — Thu, 10 Dec 2009 14:48:21 +0000

Today there is a huge concern about obesity. It is a medical condition characterized by excessive body fat accumulated to a point where it has become a health issue. It is associated with high blood pressure, type 2 diabetes, sleep apnea, and heart disease – ultimately leading to reduced life expectancy. Obesity is a condition that can be caused by inactivity, excessive consumption of calories, or a genetic predisposition.

Scientists have used genome-wide studies to define a relationship between body mass index and polymorphisms in the FTO gene (Fat Mass and Obesity Associated Gene). Recently, insights into the function of the gene has revealed some very interesting data that gives rise to optimism. Fischer et al. (2009) have shown that mice who do not have the FTO gene product are capable of decreasing fat tissue. In addition they have shown that down-regulation of the FTO gene seems to provide protection against calorie-induced obesity. These findings verify the importance of the FTO gene for the regulation of body weight. The results of this research will become very important for the development of new ways to treat obesity.

Reference: Fischer J, Koch L, Emmerling C, Vierkotten J, Peters T, Bruning JC, Ruther U: Inactivation of the Fto gene protects from obesity. Nature 2009, 458(7240):894-898.

Genetic Disorders Go B/Hollywood

hilgert — Tue, 01 Dec 2009 17:15:42 +0000

Remember Brad Pitt as Benjamin Button? Benjamin’s disorder, that had him being born looking like an 80-year-old man and “reverse aging” to pass away as a baby? Well, while I still am not aware of a real disorder that causes this kind of a phenomenon, there is a disorder that indeed makes people age much faster than normal: Hutchinson-Gilford Progeria Syndrome (Progeria for short), which is about to be depicted in a movie of its own.

Progeria is a very rare, genetic disorder that afflicts roughly one in 5 million people. It is caused by a mutation in the LaminA gene on chromosome 1. The most striking symptom of Progeria-afflicted children is that they age rapidly. They frequently succumb to coronary artery disease before they reach 20 years of age.

Directed by R Balakrishnan the Indian movie company AB Corp Ltd. has released the movie “Paa”. The picture’s protagonist is a 13-year old boy afflicted with progeria – and is being played by an actor who is actually in his 60s. AB Corp Ltd. proclaims that Paa is not a movie about the disease Progeria, but about “how special children can fill your life with special brightness.”

Read more: about Progeria at the Progeria Research Foundation; about living with serious genetic disorders at the DNALC’s Your Genes, Your Health site.

How can I prolong health? Hmmm…..

jwatkins — Sat, 07 Nov 2009 00:33:03 +0000

Having an edge on the stock market can allow one to make hundreds, thousands or even millions of dollars. But rarely do we think of having an edge on life. Since the sequencing of the human genome our understanding of human genes and their interaction has grown. Geneticists now have the capability to analyze genetic make-ups, and elucidate what genetic patterns will evolve into certain conditions or disease states.

Any individual has a unique genetic profile different from that of another person. Contained within these differences are unique genetic variations that may make a person more susceptible to diseases such as cancer and diabetes. There are genetic profiling centers that can assist you in identifying your genetic variations. With this information you and your physician can watch your health where it is at risk to becoming a problem and mold a life style toward prolonged health. In order to decrease the impact of a possible problem, it is important that you’re analysis be broad-spectrum and precise. It will be of great interest to identify the premier centers for analysis of genetic variants. Be curious and talk with your physician about the resources that will give you the edge in enhancing your quality of life.

Trembling Hands and … Genes?

hilgert — Fri, 23 Oct 2009 19:01:27 +0000

Fragile X Tremor/Ataxia Syndrome (FXTAS) is among the most prevalent heritable neurodegenerative disorders. Its symptoms usually develop in men 50 years of age or older and include tremors in arms and hands, balance problems (ataxia), numbness in the extremities, mood instability, short-term memory loss, and gradual intellectual decline. The prevalence of FXTAS is about 2-5 persons per 10,000 in the general population.

The underlying cause for FXTAS is a mutation in the gene for Fragile X Mental Retardation Protein (FMRP), which is located on the X-chromosome; its protein product, Pur-α is essential for normal neural function. Scientists have recently determined the three-dimensional structure for this protein, a first step in the potential identification of an effective treatment that would address the cause and not just the symptoms of FXTAS.

As described in Your Genes, Your Health, the gene contains a region that consists of repeated CGG DNA triplets. In healthy people, both copies of their FMRP gene contain 5-54 copies of the CGG triplet. Disorder manifests itself if the repeat numbers exceed 54 in both gene copies (the disorder is recessive): 55-200 repeats lead to FXTAS, as described above. Repeat numbers exceeding 200 lead to Fragile X Syndrome (FXS), the second most common cause of heritable mental impairment after Down’s syndrome.

Given that the symptoms of FXTAS include shaking hands, it is interesting that the authors describe the shape of the FMRP protein, Pur-α as: “The crystal structure of Pur-α … looks like a hand: four so-called beta-strands, corresponding to four fingers, form a beta-sheet, and an adjacent alpha-helix resembles a thumb.” Apparently, pairs of PUR repeats bind to each other in a configuration that is reminiscent of a handshake, forming a functional unit that binds to RNA.

The fight against Huntington’s

jwatkins — Fri, 09 Oct 2009 13:19:40 +0000

Huntington’s disease (HD) is an inherited disease, characterized by the wasting away of certain nerve cells in the brain. If a person inherits only one mutated copy of the Huntingtin gene they develop the disease. One who is born with the defective gene responsible for the disease may not show any of the symptoms until middle age. Symptoms could consist of balance issues, uncontrolled movements or clumsiness. In the progression of the disease one may also loose the capability to talk or even walk.

Medivation, Inc. and Pfizer Inc. have publicized that the start of phase three trials in the usage of the drug Dimebon in patients with HD and its ability to improve cognition. Dimebon (latrepiridine), is an exploratory drug in the third phase of developmental treatment of HD patients. The drug shows the ability to prevent damage to brain cells, enhance cell survival through the stabilization and improvement of mitochondrial function. The drug has been given Orphan status by the Food and Drug Administration. Orphan status just allows companies like Pfizer and Medivation to have exclusive marketing rights in the United States if the drug is approved by the FDA as a viable treatment for HD.