Showing posts with the label Genetics

Genetic Mutation helps Amish live longer, healthier!

Genetic mutations are usually associated with bad news. A mutation in BRCA genes could put you at risk of breast or ovarian cancer or give you a blood disorder like thalassemia or haemophilia. From cystic fibrosis to phenylketonuria, colour blindness to polycystic kidney, there is a long list (some rare, some not so rare) of diseases caused by mutations. 

Although, Marvel Comics has done a lot on its part to promote the good that can come out of harboring a rare mutation, the benefits are yet to reach the common man. A commonly cited example for good mutation is the resistance to malaria that is conferred by the Sickle Cell mutation, but it does come with the risk of getting two copies of the mutation and being affected by sickled red blood cells. There are a few other mutations that seem to help people lower their risk for heart diseases, get stronger bones or improve their under water vision.
But, a recently published paper in Science Advances puts light on a mutation in SERPINE1 gene …

5 reasons why 'Three Person IVF' is not really worth the trouble?

The introduction of 'In vitro fertilization' technique in the field of reproductive medicine came as a boon for thousands of couples who, until then, were left helpless by their inability to conceive. The hard work of Patrick Steptoe and Robert Edwards in developing this technique bore fruit in 1977, when Lousie Brown, the world's first 'test-tube baby' was born in Manchester.
This moment in history was glorified recently in the year 2010, when Edwards was given the Nobel Prize in Medicine. By now, the technique had helped thousands of families all over the globe and become simply known as IVF to one and all. But within a few years from this glorious moment, we are looking at yet another breakthrough in reproductive medicine, which goes much further than what IVF achieved. Instead of just fertilizing the eggs in a petri-dish, a 'The 'Three Person IVF' allows for fertilization of an egg, using DNA from three people, the father, the mother and a donor. The…

Alzheimer's disease: The peanut butter test!

A tablespoon of peanut butter might help determine if you are developing Alzheimer's disease. As bizzare as it might sound, researchers at the University of Florida have been successful in demonstrating that a dollop of peanut butter and a ruler is all you to need to test patients for early signs of Alzheimer's disease. Development of such a simple test will greatly help clinicians diagnose Alzheimer's earlier and give them an opportunity for earlier intervention.

The idea of using peanut butter came to a graduate student, Jennifer Stamps, who while working in the department of neurology at the University of Florida, noticed that patients suspected for Alzheimer's were not being tested for their sense of smell. The idea behind testing patients for their smelling ability came from the fact that the first cranial nerve in the brain has an olfactory function, or in simple terms carries the smell from the nasal cavity to the brain and is one of the first nerves to be affect…

7 facts about Polyomaviruses

Over the last few decades, cancer has become a commonly known disorder. Advances in modern medicine have brought in newer methods of cancer detection and treatment thereby improving the quality of life. But two facets  of cancer still remain elusive to us, a permanent cure as well as a well defined cause.
Different theories have been hypothesized to explain the emergence of cancer in first place. Various studies have been conducted around these theories and we have managed to come up factors such drinking, smoking, gene mutations etc. that might increase one's susceptibility to cancer but no defined cause. One of the tangible cause we have so far are viruses.
Known to us since 1950s, Polyomaviruses are viruses that possess the ability to cause multiple (poly) tumors (-oma). These are close relatives of the Papillomaviruses that are known to cause warts or non cancerous tumours in humans. For quite some time, we knew of only two Polyomaviruses that could infect humans. But studies…

Animals that live on Sunlight!

We have long since known that plants and algae are capable of using sunlight to synthesize their own energy. They essentially create their own food, and that was, by far, the clear distinction that separated plants and animals. However, nature just blurred that distinction further! Scientists have found that there are some pretty incredible animals that have been doing what we thought was a skill exclusively gifted to plants - photosynthesis.
These unique animals dubbed, ‘photobionts’ are capable of surviving only with light and air. One such animal is the solar powered, sacoglossan mollusc or the sea slug. Now one would imagine that this must be some sort of symbiotic relationship being maintained between a photosynthetic plant and the slug. On the contrary, the sea slug steals the photosynthetic apparatus from the plant/algae it engulfs. It doesn’t just stop at that, it also retains the photosynthetic genes from its meal! And like all animals, the sea slug is not selfish, it also thi…

You are what you eat

I’m sure all of us must have, at some time or the other, been drilled to eat our veggies, because they were undoubtedly the healthiest anything could get. But recent scientific studies say that this belief may not be entirely true. Although veggies help in improving eyesight, providing nutrition, etc. the genomes of these plants are believed to have a negative impact on human health.

A study done by a Chinese team indicated that micro RNAs present in vegetables enter the human bloodstream after consumption. Genomes of plants were observed to have health consequences, and some bio molecules were observed to be active even after digestion!

The team tested hundreds of volunteers for a study and, nearly 50 types of plant micro RNAs were found present in the blood samples of the volunteers. In the study it was also observed that the molecule MIR168a commonly found in rice, paired with human RNA led to removal of unwanted LDL cholesterol present in the bloodstream.

So, all is not bad after all…

The story of Ringo, a dog who escaped Duchenne Muscular Dsytrophy!

By definition, a genetic disorder is one caused due to defects arising in genes. If you have inherited the defective gene or genes, then you are bound to be affected by the disorder.

A common example is Duchenne Muscular Dystrophy, caused in humans by a defective copy of the Dystrophin gene (DMD) that encodes the dystrohin protein. DMD gene is located on the X chromosome. Since, females in humans have two X chromosomes, one defective copy of the X chromosome makes the person a carrier for the disorder. Muscular Dystrophy usually does not affect females, unless she is the progeny of an affected father and carrier mother. However, males, who inherit only one X chromosome from their mother, have a 50% chance of getting the defective copy of the gene from a carrier mother and therefore are at 50% risk of being affected by muscular dystrophy. That's the thumb rule.

Meet Ringo, a male Golden Retriever, the exception!  

Golden Retrievers are also susceptible to muscular dystrophy, called th…

Genes that come from No Where!

Genetics has come a long way since the 1950’s. Although there has been progress made in unravelling the mysteries of our molecular heritage, we are constantly stumped by newer facts about our genetic code. And the one that leads the way is the mystery about Junk DNA.

Genes, our molecular hereditary information, although bulky and cumbersome have a methodical way of working. Genes are transcribed into RNA which in turn are coded into protein, and these proteins finally get involved in the molecular build-up of our existence, thus making the genes where they come from, the foundation of it all.

But not all of the gene or genetic material is really coded into protein. There is a major portion which is left out of this entire process and is not capable of coding for protein; this is called ‘junk DNA’. Interesting facts about ‘junk DNA’ have baffled the world of science, like the ‘junk DNA’ constitutes almost 95% of the human genome!

For years the scientific world was intrigued by these '…