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Faulty Gene Causes Heart Attack Death

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A faulty gene variant that can cause heart attack mortalities also potentially opens the way for improved treatment following such attacks.
……………………………………....CLICK & SEE

“It’s been known for some time that a defective ACE2 gene is associated with high blood pressure, but our research has also clearly linked one variant of this gene to a greater likelihood of mortality after heart attack,” said lead researcher Barry Palmer of Otago University, Christchurch.

“This is particularly in middle aged males who have acute coronary syndromes, or reduced flow of blood to the heart,” he added.

Otago scientists carried out the study over three years on a large cohort of 1,075 people (males and females) recruited from hospitals. They found, after adjusting for variables such as age, that male patients are almost twice as likely to die if they had one particular (defective) variant of the ACE2 gene.

“This is the first time ever that this variant of the ACE2 gene has been identified in terms of survivability,” said Palmer. “It will be useful in terms of other research we’re doing on tailoring heart disease treatment more accurately to the patient.”

“If we can identify those people at greater risk we may be able to do more earlier on in their treatment, and it’s easy enough to identify if someone has this variant of the gene.”

Males are more prone than females to the effects of the ACE2 gene variant which is linked to reduced survival because of their chromosomal make-up. That’s because males have only one copy in each cell of the ACE2 gene on the X chromosome and none on the Y chromosome, whereas females have two X chromosomes, according to an Otago release.

This means that if a male has a defective ACE2 gene variant there is no complementary chromosome which can compensate for that ineffective gene. Females have an alternative copy of the gene on their second X chromosome which can compensate for the defective ACE2 gene, and provide normal blood pressure to the heart.

In its normal form on the X chromosome the ACE2 gene produces an enzyme which controls blood pressure by influencing hormone levels. It is only when that gene is defective that blood pressure may increase.

The research was published in the October issue of the American Heart Journal.

You may click to see:->FAMILIAL HYPERCHOLESTEROLAEMIA Cardiovascular disease

Sources:
The Times Of India

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WHY CORNER

Why Do Leaves Fall Off Trees?

Ever wondered why leaves fall off trees in fall? Well, the secret actually lies in cellular mechanism, says a new study.

………...CLICK & SEE

Researchers have found that trees use an elaborate cellular mechanism to part company from their leaves, which act as “solar cells” in the summer but become superfluous in the darker winter months.

According to them, at the base of each leaf is a special layer called the abscission zone. When the time comes in autumn to shed a leaf, cells in this layer begin to swell, slowing the transport of nutrients between the tree and leaf.

And, once the abscission zone has been blocked, a tear line forms and moves downwards, until eventually the leaf is blown away or falls off – a protective layer seals the wound thereby preventing water evaporating and bugs getting in, ‘The Daily Telegraph‘ reported.

In fact, the discovery into how trees take on their winter aspect follows a study explaining the bright colours of autumn foliage.

And, in their new study, the researchers at Missouri University has revealed that the genetic pathway that controls abscission in the plant species Arabidopsis thaliana, a little weed that’s the favourite experimental subject of scientists.

According to them, a pathway of genes is involved in the process of abscission in Arabidopsis using a combination of molecular genetics and imagine techniques.

“Several different genes are involved in the process. Instead of looking at individual genes or proteins, we looked at an entire network at once to see how the difference genes work together in abscission,” lead researcher Prof John Walker was quoted as saying.

Sources: The findings are published in the ‘Proceedings of the National Academy of Sciences‘ journal.

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Featured

Some Scream While Others Laugh


‘Ever wondered why horror flicks make some people scream or even faint in theatres at scenes of spinning heads and shaking beds while others laugh? Well, the answer lies in the genes.

A team at Bonn University in Germany has found that a gene, which affects a chemical in the brain that is linked to anxiety, is actually responsible for the two different kinds of behaviour in people watching the same horror movie.

According to researchers, people who have two copies of a particular variant of the ‘COMT‘ gene are more likely to get disturbed when viewing unpleasant pictures — because that version weakens the effect of a signalling chemical in brain that helps control certain emotions.

On the other hand, people who possess just one copy of the gene and one copy of another version could jolly well keep their emotions in check far more readily, British newspaper the Daily Telegraph reported.

The researchers have based their findings on a study of around 100 women who were showed three different types of pictures — emotionally “pleasant” ones of smiling babies and cute animals, “neutral” ones of items like electric plugs or hairdryers, and “aversive” ones of weapons or injured victims.

Lead researcher Christian Montag said that he thought the gene variant linked to scaring more easily only recently evolved as it was not present in other primates and propensity to scare more easily could have offered humans an advantage.

“It was an advantage to be more anxious in a dangerous environment,” he said, adding that a single gene variation can account for only some of people’s anxiety differences, or else up to half the population would be anxious.

“This single gene variation is potentially only one of many factors influencing a complex trait as anxiety.

Still, to identify the first candidates for genes associated with an anxiety-prone personality is a step in the right direction,” Montag said. The study has been published in the latest edition of the Behavioural Neuroscience journal

You may also click to see:->Horror film gene that makes some scream while others laugh

Sources: Thw Times Of India

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Featured

Talk About Genes

Diagram of the location of introns and exons w...Image via Wikipedia

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People who are sick look at those who are well and wonder: Why am I ill? Why not them? Is it the environmental pollution? Or my diet? Perhaps it is the witches, curses or the evil eye. Maybe incantations and amulets will set things right.

Human genes are located on 23 pairs of chromosomes

Today, rapid scientific advance in microbiology has helped identify disease-causing organisms (bacteria and viruses) not visible to the naked eye. Biochemistry has helped locate the exact molecular level at which enzyme reactions become faulty and result in diseases. We also know now that most diseases have a genetic basis. People may have the same genotype or genetic configuration, but the expression of these genes in the body (the phenotype) may be different. This makes one’s response to disease different from another’s — some succumb to it while others don’t.

Genes are located on specific loci on chromosomes. We inherit 20,000-30,000 genes, located on 23 pairs of chromosomes, from our parents. Twenty-two of these are identical. The 23rd is the sex chromosome. If it is expressed as XX, the person is a female and if it is XY, the person is a male.

Abnormal genes that theoretically should cause disease can vary in their penetrability. A person may carry the gene and yet not express the disease. But he or she will, however, pass it to his or her children. The disease may suddenly manifest itself generations later, puzzling everyone as to why no one in the family has it. This is true of vitiligo (white patches), icthyosis (dry skin), psoriasis and other conditions.

A single defective gene can produce abnormalities in multiple organs. The gene causing osteogenesis imperfecta (where the fragile bones keep breaking) also causes deafness and defective teeth. Some gene positive individuals may have normal bones, but their joints may be abnormally mobile and hyper extensible. They are often advertised in circus acts as “rubber or plastic people”.

A defective gene may be dominant — that is, it expresses itself in all the people who carry it. Or it may be recessive and a person expresses the disease only if he or she has inadvertently been saddled with two defective genes, one from each parent. This is most likely to occur in communities where consanguinity (marrying a relative like a cousin or an uncle) is prevalent. This accounts for diseases like sickle cell disease and thalassaemia.

Some traits are X-linked and carried on the X chromosome. Females are protected as they have two copies of the X, one from the mother and the other from the father. Males get their X from their mother and their Y from their father. Unprotected by a normal chromosome, they express any disease caused by a defective X from the mother. Muscular dystrophy and haemophilia are X-linked diseases carried by apparently normal women and passed on to their sons.

Sex limited inheritance may be expressed only in one sex even if the inheritance is dominant. A typical example is premature baldness. Men are more likely to be bald even though women, too, may carry the gene. Women are protected until menopause by the female hormones. Sometimes an abnormality occurs in a child despite the parents being genetically normal. This occurs because of spontaneous changes or mutations during early embryonic development, with an injury — like a viral infection, medications or radiation — causing the changes. Eighty per cent of “circus dwarfs” fall in this category.

As cells age, the proteins comprising genes become faulty. The chromosomes themselves may develop deletions, translocations and abnormal attachments. Parents may then give birth to children with diseases like Down’s Syndrome.

Many diseases like high blood pressure, diabetes, heart disease and cancer have a “multifactorial inheritance”. Although the defective genes have been inherited, the disease manifests itself only when there is the required mix of environmental and genetic factors. Alcoholism and drug abuse are hereditary, but will not manifest themselves in a regimentalised, teetotal society where neither alcohol nor drugs is available.

Genes, chromosomes and their inheritance can be plotted and studied. Genetic screening can identify people at risk for a particular disorder. Testing is appropriate even before symptoms begin if there is a strong family history of the disorder. In the case of sickle cell anaemia, thalassaemia and breast cancer, it may help to identify asymptomatic people and may be life saving. Tests can be done for some diseases before birth (in utero) with maternal blood samples, chorionic villous sampling, or amniotic fluid or umbilical cord blood. Neonates with inborn errors of metabolism (IEM) can be diagnosed a few hours after birth. At this time it may be possible to initiate life-saving treatment.

Gene therapy is being studied. It involves the insertion of copies of normal genes, switching off faulty genes or stem cell transplantation and therapy. Science is progressing by leaps and bounds. Perhaps the day is not far when genetic diseases, too, will be a part of the past.

Sources: The Telegraph (Kolkata, India)

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Ailmemts & Remedies

Congenital Blindness

Vision plays a very important part in the early development of a child. Impaired vision at birth will cause serious delay in development and is likely to lead to learning disabilities, particularly when associated with other problems, such as congenital deafness.

………………………………………………Jyotindra Mehta
Congenital blindness due to Retinitis Pigmentosa (RP) took away Jyotindra Mehta’s power of sight at a very young age. Emigration to the US on scholarship, coupled with a readiness to take up any challenge, resulted in Jyotindra’s quick success there.

and Nevy George
Congenital blindness due to Retinitis Pigmentosa (RP) took away thir eye sight at very early age.

About 9 in 10 children who are considered blind from birth have some vision, even though it may be only recognition of light and dark or shapes…..CLICK & SEE

Causes:
There are several causes including microphthalmos, cataracts, bilateral pseudogliomatous retinal detachments, and phthisis bulbi. OPPG is usually not suspected until fractures occur, frequently after seemingly minor trauma.

In the developed world, half of all cases of congenital blindness run in families and therefore may be due to a genetic disorder. another important cause is congenital infection such as the protozoal infection toxoplasmosis and the viral infection rubella. These infections are transmitted from the mother to the developing fetus during pregnancy and may lead to impaired vision in the newborn baby. congenital rubella is now rare in the developed world due to routine immunization. The baby’s eyes may also be affected by cataracts, in which the lenses are opaque, or glaucoma, in which the optic nerve is damaged due to increased pressure in the eyes. Congenital blindness may also be caused by damage to the brain as a result of lack of oxygen during birth.

Symptoms:
Parents usually become aware that their have a vision problem within a few weeks. he or she may less responsive than other babies, lying quietly to make the most of his or her hearing. parents may also notice that their baby:

· Is unable to fix his or her eyes on a close object.
· Has random eye movements.
· Does not smile by the age of 6 weeks.
· Has abnormally large, cloudy eyes if glaucoma is present.

Parents may find it difficult to bond with a quiet baby who does not smile.

Diagnosis:
If congenital blindness is not suspected by a baby’s parents, it will probably be picked up during a routine examination in infancy. A child suspected of having an impaired vision will be referred to a specialist for an examination and tests. His or her hearing will also be tested because, if the child is severely visually impaired, he or she will rely more on hearing.

Treatment:
It is possible to improve vision in only a smaller number of babies, such as those with cataracts or glaucoma. Early treatment of these conditions is important. cataracts are usually removed surgically within the first month of life. glaucoma may also be treated surgically to allow fluid to drain from the eye.

If vision cannot be improve, much can be done to help a child make maximum use of other senses or what little vision he or she has. if your child is diagnosed as blind, a team of specialist, including a teacher for the blind, will be able to give you and your child support and care. You will also be given advice on how to stimulate your child, by using your speech, sounds, and touch and how to adapt your home so that your child can explore it safely and develop self-confidence. Some children will require special schooling to learn braille, a system of raised dots that allows blind people to read.

Genetics counseling is available for parents of an affected child who wish to have more children or for prospective parents who are blind.

Click to see :
->

Preventable Causes of Congenital Abnormalities
Enzyme Responsible For Congenital Blindness
Prognosis :
Children treated for cataracts or glaucoma will probably still have impaired vision but often have enough sight to perform most activities unaided. Many blind or visually impaired children with no other disabilities go on to have successful personal and professional lives.

Disclaimer: This information is not meant to be a substitute for professional medical advise or help. It is always best to consult with a Physician about serious health concerns. This information is in no way intended to diagnose or prescribe remedies.This is purely for educational purpose

Resources:
http://www.charak.com/DiseasePage.asp?thx=1&id=338
http://www.blonnet.com/ew/2005/03/07/stories/2005030700230200.htm

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