Cystic fibrosis is an inherited and chronic disease that affects secretory glands, resulting in excessive production of salty sweat and mucus. While in a healthy individual mucus is slippery and watery substance, in Cystic Fibrosis patients, it is sticky and thick. The mucus production and accumulation damage the lungs, digestive tract, sex organs, and pancreases. The most Cystic Fibrosis features are chronic digestive system problems and progressive damage to the respiratory system.
Depending on the patient’s age and characteristic, the severity and symptoms of the disease vary. Usually, mucus blocks the airways, causing bacterial infections and breathing difficulties in the lungs. Over time, the disease can cause chronic inflammation, wheezing and coughing, develop into permanent damage to the lungs, the formation of scar tissue, and cysts in the lungs.
Cystic Fibrosis of occurs when there is an alteration in the cystic fibrosis transmembrane conductance regulator (CFTR) , a gene responsible for moving negatively charged particles called chloride ions out and into the cells. The element chloride is derived from sodium chloride. The component has important roles in a cell, such as regulating chloride ions that control the movement of water in tissue, a function that enables a healthy person to produce thin, freely flowing mucus. Due to the disease, the chloride does not properly control the flow of water and chloride ions through the cell. Consequently, cells near the lungs and other organs produce sticky and thick mucus.
Studying genetics is very important because it helps us to understand some diseases that run in our families. It also helps us understand our own health and make good choices.
Genetics helps to explain what makes us unique. Every individual in a family is unique. Part of what make people unique is their genes. Genes control how people look and how their body works. We are unique because we have different genes.
Why do family members have some things in common? Children inherit genes from their parents. A child receives one set of genes from the mother and one set from the father. These genes may match up in numerous ways to make various combinations. This explains why some family members look alike while others don’t resemble each other at all. Families also share an environment, diet, and habits, factors that may influence how healthy family members are later in life.
Some disease occurs when there is a change in the instructions in the genes, a process known as mutation. Mutation can cause disease or turn out to be slightly helpful. Many diseases are caused by a particular alteration in the DNA of a single gene. Usually, these conditions develop when a person is born with a mutated gene. If an unusual disease runs in your family, note it down and seek help from a healthcare provider.
When it comes to heart diseases, genetics is not a destiny. A new data analysis of over 55,000 individuals shows that by living right— by exercising moderately, by eating a healthy diet and by not smoking — individuals can tamp down genetic risk.
Approximately 365,000 individuals die of coronary heart disease annually in the US, and about 17.3 million globally, making it one of the leading killers.
The researchers found that genes can increase the heart disease risk, but healthy habits cut it in half. Also important, they found, a bad lifestyle removes about half of the advantages of good genetics.
In one study the group analyzed white and black Americans aged 45 to 64. A health living in people with the highest genetic risk reduced the 10-year possibility of heart disease to about 5.1% from 10, 7 %. Another study that involved 21,222 women aged 45 and older had a good lifestyle; their 10-year risk reduced to 2% from 4.6% in the high risk group once they had a healthy lifestyle. Finally, in a study of individuals aged 55 to 80, those who had a genetic risk but a good lifestyle had less calcium, a heart disease sign, in their coronary arteries. The new study showed a new way to think about lifestyle and genes.
Understanding the behavior of bacteria in space is important for protecting astronauts on long spaceflights, and previous research has shown that bacteria behave differently in the microgravity environment of space. For example, in space, bacteria multiply to higher numbers and in some cases are more virulent and less susceptible to antibiotics. Researchers had previously theorized that this behavior results from the lack of gravity reducing the movement of extracellular molecules and leading to reduced nutrient availability, however, there was little evidence to support this theory.
To gain more insight into the reduced extracellular transport model, the authors of the present study compared gene expression between E. coli grown at the International Space Station and grown on Earth. The authors found that in space, bacteria expressed more genes associated with starvation conditions, including genes encoding proteins for amino acid synthesis, glucose breakdown and use of alternative carbon sources. This pattern of gene expression is likely a reaction to reduced glucose availability, supporting the model of reduced movement of molecules in the bacteria’s extracellular environment.
This new gene expression data therefore provides additional evidence that the altered behavior of bacteria in space results from decreased gravity driving reduced extracellular transport of molecules. Future spaceflight experiments that examine a variety of other bacterial species under differing growth conditions could help explain changes in bacterial growth and virulence that could significantly affect people living in space.
“The microgravity environment of the International Space Station is now being used for myriad lines of research, for example: vaccine development, finding novel molecular targets against drug-resistant pathogens, and testing of molecules to be used against osteoporosis or cancer,” Zea says. “This new understanding of how extracellular biophysical processes initiate mechanical transduction signals in bacteria in space may serve not only to protect astronauts as they venture beyond Earth orbit, but these other lines of research as well.”
In biology, sleep remains one of the least understood occurrences. Since researchers discovered that sleep is regulated genetically, a lot of research has been done on two fronts: attempts to find genes that cause human sleep disorder and the development of model organisms for understanding the molecular mechanism of sleep.
Genes regulate many aspects of our lives, from how tall we grow, to how we look like. A recent study has found that genes may even play a role in human sleep habits. The scientists found two genes in mice, one that determines how much deep sleep humans get and whether or not they can dream. The researchers suggest that their findings could lead to treatments for sleep disorders.
The study carried out by Peter O’Donnell Jr. Brain Institute shows that one gene regulates the amount of non-REM sleep, which comprises deep sleep. Another gene regulates the need or amount for REM sleep, related to vivid dreaming. The discovery is an important molecular entry point to describe how sleep works and to identify better treatments for sleep disorders.
For the research, the scientists studied the sleep patterns of two genetically modified mice: “Sleepy,” a mice with alteration in the Salt-Inducible Kinase 3 Sik3 (Sik3) gene that increased REM sleep, and “Dreamless,” a mice who had a mutation in a gene know as Sodium Leak Channel Non-selective (Nalcn). Nalcn gene causes the mice to have less REM sleep. When those mutations were induced in other mice, the researchers observed that they have effects on sleep.
Dwarfism is a condition that occurs when an animal has a short stature. In humans, it is defined as an adult with a height of 4 feet 10 inches or less. The two main groups of dwarfism are: proportionate and disproportionate. In proportionate group, the parts of the body are proportionate. Disproportionate dwarfs have shorter legs and arms and average-size trunk.
In most cases, dwarfism is caused by genetic disorder. Most dwarfism occurrences result from the genetic mutation in the mother’s egg or the father’s sperm rather than from complete genetic makeup of either parent.
The common genetic disorders that cause dwarfism are achondroplasia, turner syndrome and growth hormone deficiency. About 80% of individuals with achondroplasia condition are born to normal parents. A person with achondroplasia received one mutated gene linked with the condition and one normal copy of the gene. An individual with the disorder may pass either normal or mutated copy to his/her own children.
Turner syndrome affects only women and girls. It results when the X chromosome is missing. A girl with this disorder has one fully functioning copy of the X chromosome rather than two. Finally, the deficiency of growth hormone can sometimes be traced to an injury or genetic mutation.
Like many aspects of human cognition and behavior, intelligence is a trait that is influenced by both environmental and genetic factors. Generally, Intelligence is difficult to study because it can be measured and defined in various ways. Many definitions of intelligence take account the ability to adapt to changing environment and to learn from experiences. Elements of intelligence are the ability to plan, reason, think abstractly, understand complex ideas and solve problems.
Researchers have carried out many studies to identify genes that determine the level of intelligence. Most of these studies have focused on differences and similarities in IQ within relatives, mainly looking at twins and adopted children. These studies have found that genes underlie about a half of the difference in intelligence among people.
Other studies have explored variations across the whole genomes of several people to determine if there are any particular areas of the genomes that are related to IQ. Although these studies have not conclusively found any genes that influence intelligence, it is likely that numerous genes are involved, each making a small contribution to the intelligence of an individual.
Intelligence is also influenced by environment. Parenting, nutrition, availability of learning resources and education, among others, all influence intelligence.