Sunday, 18 November 2018

Gene Mutation: The Hair loss

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Researchers have identified a new gene which is involved in hair growth and also found the gene mutation which is responsible for hypotrichosis simplex, a hereditary hair loss disorder which is affecting people nowadays. The disorder causes hair follicle miniaturization, a process in which hair follicles shrink and narrow, and thick hair is supplanted by fine, downy "peach fuzz" hair. This discovery may affect the future researches and treatments for the male pattern baldness and other forms of hair loss.

The identification of this gene basic hereditary hypotrichosis simplex has managed us an opportunity to gain understanding into the method of hair follicle miniaturization, which is most commonly watched in male pattern hair loss or androgenetic alopecia. It is important to note that whereas these two conditions share the same physiologic process, the gene researchers found for genetic hypotrichosis does not clarify the complex process of male pattern hair loss.

The team researchers made their data by analyzing genetic data from few families and from countries like Pakistan and Italy who have hereditary hypotrichosis simplex. After analysis they found a common mutation in the APCDD1 gene, which is found in a particular region on chromosome 18 that has been appeared in past studies to be involved in other shapes of hair loss, counting androgenetic alopecia and alopecia areata, implying at a broader part in hair follicle biology.

Importantly, the analysts found that APCDD1 inhibits a signaling pathway that has long been appeared to control hair development in mouse models but has not been broadly connected to human hair development. Laboratory researchers have focused on this pathway, known as the Wnt signaling pathway, to turn on or off hair development in mice, but, until presently, the pathway did not show up to be included in human hair loss. This finding is significant since it gives evidence that hair growth patterns in people and in mice are more similar than already accepted.

These findings suggest that manipulating the Wnt pathway may have an effect on hair follicle growth for the first time, in humans And unlike commonly available treatments for hair loss that involve blocking hormonal pathways. They are now working to understand the complex genetic causes of other forms of hair loss including alopecia areata, with the hope of eventually developing new, effective treatments for these conditions.

Saturday, 10 November 2018

Blue-eyed humans have a single, common ancestor

New research reveals that people with blue eyes have (single) common ancestor. Previously we all had brown eyes, but a genetic mutation affecting the OCA2 gene in our chromosomes resulted in the creation of a 'switch,' which literally turned off the ability to produce brown eyes.

The OCA2 gene codes for the P protein, which is involved in the production of melanin pigment that gives color to our hair, eyes, and skin. The "switch," which is found within the gene adjacent to OCA2, however does not, turn off the gene totally, but rather limits its action to lessening the production of melanin within the iris successfully i.e; "diluting" brown eyes to blue. The switch's impact on OCA2 is exceptionally specific.

In addition to having significantly less melanin in their iris than people with brown eyes, hazel eyes or green eyes, blue-eyed individuals have only a little degree of variation in their genetic coding for melanin production. Brown-eyed people, on the other hand, have significant individual variation within the area of their DNA that controls melanin production. From this, the researchers conclude that all blue-eyed individuals are linked to the same ancestors and they all have inherited the same switch at exactly the same spot in their DNA.
The color of our eyes depends on the amount of melanin is present in the iris. There's only brown color within the eye — there's no hazel shade or green shade or blue color. Brown eyes have the highest amount of melanin within the iris, and blue eyes have the slightest.

Risks Associated With Blue Eyes
As blue eyes contain less melanin as compared to hazel, brown and green eyes they are more susceptible to damage from UV and blue light because melanin in the iris protects the back of the eye from the damage caused by UV radiation and high-energy visible ("blue") light from sunlight and artificial sources of these rays.
Research has shown that blue eye colour is associated with a greater risk of age-related macular degeneration (AMD) and a rare but potentially deadly form of eye cancer called uveal melanoma.
For these reasons, people with blue eyes should be more cautious regarding their exposure to sunlight.

Saturday, 3 November 2018

Freckles and Genetics


A few individuals are more likely to urge freckles than others, depending on their genes and skin type. If a person is hereditarily more likely to develop freckles, exposure to daylight can make them appear. Freckles are common in children and may vanish or ended up less noticeable as they grow up.

Freckles show up when melanin, the pigment that gives skin its color, builds up beneath the skin. Freckles may look brown, red, or tan. Sun exposure and hereditary factors make some people more likely to create freckles.

1. Sun exposure:
A person's skin cells produce additional melanin to protect the skin from sun damage. This is why freckles tend to seem after sun exposure. Freckles can show up over a large area of skin and can reappear or become darker within the summer months. Spots regularly fade or vanish within the winter months, when new skin cells replace old cells. Freckles develop on areas often uncovered to daylight, such as the: face, arms, neck, back, chest

2. Genetics
Genetics moreover play a leading role in who is more likely to develop freckles based on which type of melanin their body produces. The body can produce two sorts of melanin called pheomelanin and eumelanin. Eumelanin ensures the skin from UV beams, but pheomelanin does not. The type of melanin the body produces depends on a gene called MC1R. People with dim hair, eyes, and skin usually deliver mostly eumelanin and are less likely to create freckles. People with red, blonde, or light brown hair and who have light-colored skin and eyes usually deliver mainly pheomelanin and are more likely to develop freckles.

Freckles are not dangerous. However, as individuals with freckles have skin that's more touchy to daylight, they should take additional care to protect their skin from the sun. Freckles can look very comparable to other marks that develop on the skin. For example, they can look like sun spots, moreover known as age spots, or liver spots. Sun exposure could be an essential cause of both spots and age spots. Age spots are ordinarily bigger than freckles, are more clearly characterized, and tend to seem in older adults.

Saturday, 20 October 2018

Could we use gene mutations to treat diabetes and heart disease?

Researchers say they have found a gene mutation that moderates the metabolism of sugar within the intestine, giving individuals who have the mutation a distinct advantage over those who don't. 
Those with the mutation have a lower chance of diabetes, obesity, heart failure, and even death. The analysts say their finding may give the basis for drug therapies that could imitate the workings of this gene mutation, offering a potential advantage for the millions of individuals who endure with diabetes, heart disease, and obesity.

The study shows that individuals who have the characteristic gene mutation have an advantage when it comes to diet. Those who eat a high-carbohydrate diet and have this mutation will retain less glucose than those without the mutation. A high-carbohydrate diet includes such foods as pasta, bread, cookies, and sugar-sweetened beverages. Researchers said that they're excited about this study since it helps them to clarify the interface between what we eat, what we absorb, and our chance for disease. Knowing this opens the door to improved treatments for the cardiometabolic disease.

During the study, the analysts examined the relationship between SGLT-1 mutations and cardiometabolic disease using genetic data gotten from 8,478 participants in the Atherosclerosis Risk in Communities (ARIC) study. The analysts found that almost 6 percentages of the subjects carried a mutation in SGLT-1 that causes limited impairment of glucose absorption. People with this change had a lower incidence of type 2 diabetes, were less obese, had a lower rate of heart failure, and had a lower mortality rate when compared to those without the mutation, indeed after adjusting for dietary intake.

Based on these discoveries, the researchers recommend that specifically blocking the SGLT-1 receptor could provide a way to slow down glucose uptake to anticipate or treat cardiometabolic disease and its consequences.

Friday, 12 October 2018

Genetic Disorder: Neurofibromatosis

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Neurofibromatosis is a rare genetic Disorder in the nervous system. In this case, benign tumors grow in the nerves and in other parts of the body which affect the growth and development of nerve cell tissue. Sometimes people with this disorder affected profoundly whereas some could barely notice the neurological problems. In this disorder is a group of three disorder in which the tumors grow in the nervous system. The three types are neurofibromatosis type 1 (NF1), type 2 (NF2) neurofibromatosis and Schwannomatosis. Neurofibromas that occur on or under the skin, sometimes even deep within the body; these are benign (harmless) tumors; however, in rare cases, they can turn malignant or cancerous.

Neurofibromatosis is often inherited (passed on by family individuals through our genes), but around 50% of individuals recently analyzed with the disorder have no family history of the condition, which can emerge spontaneously through a mutation in the genes. Once this change has taken place, the mutant gene can be passed on to future eras.

<>In NF1 side effects include light brown spots on the skin, freckles within the armpit and crotch, small bumps inside nerves, and scoliosis.
<>Tiny growths in the iris (colored area) of the eye; these are called Lisch nodules and usually do not affect eyesight.
<>Bone deformities, including a twisted spine (scoliosis) or bowed legs
Tumors along the optic nerve, which may cause eyesight problems
<>In NF2 there may be hearing loss, cataracts at a youthful age, balance issues, flesh-colored skin flaps, and muscle wasting.
<>The tumors are generally non-cancerous.
<>In schwannomatosis isn't well-understood it is estimated that 85 percent of cases have no known cause (“spontaneous”) and 15 percent are acquired.

<>Neurofibromatosis is diagnosed using a number of tests, including:
<>Physical examination
<>Medical history
<>Family history
<>Computerized tomography (CT) scans
<>Magnetic resonance imaging (MRI)
<>Biopsy of neurofibromas
<>Eye tests
<>Tests for particular symptoms, such as hearing or balance tests
<>Genetic testing

Friday, 5 October 2018

Human genetic variation

Human genetic variation is the hereditary contrasts in and among populations. There may be multiple variations of any given gene within the human population (alleles), a situation called polymorphism. No two people are hereditarily identical. Indeed monozygotic twins (who create from one zygote) have occasional hereditary differences due to transformations occurring during development and gene copy-number variation. Differences between people, indeed closely related individuals, are the key to strategies such as genetic fingerprinting. The study of human genetic variation has developmental significance and therapeutic applications. It can help researchers get it ancient human populace migrations as well as how human groups are naturally related to one another. For medication, think about of human genetic variation may be vital since a few disease-causing alleles happen more frequently in individuals from particular geographic districts. Modern discoveries appear that each human has an average of 60 new mutations compared to their parents.

Causes of variation

Causes of differences between individuals include independent assortment, the exchange of genes (crossing over and recombination) during reproduction (through meiosis) and different mutational events. There are at least three reasons why hereditary variety exists between populations. The natural choice may confer an adaptive advantage to people in a particular environment if an allele provides a competitive advantage. Alleles under selection are likely to occur only in those geographic districts where they confer an advantage. A second important process is a genetic drift, which is the impact of irregular changes within the gene pool, under conditions where most mutations are natural (that is, they do not appear to have any positive or negative selective impact on the organism). Finally, little migrant populaces have statistical differences—call the founder effect—from the overall populaces where they originated; when these vagrants settle new zones, their descendant populace typically varies from their population of origin.

What Is the Significance of Human Genetic Variation?

Nearly all human genetic variation is generally insignificant biologically; that is, it has no adaptive importance. A few variations (for example, a neutral transformation) modify the amino acid sequence of the resulting protein but produce no detectable change in its work. Other variation (for the case, a silent transformation) does not indeed change the amino acid sequence.

Friday, 21 September 2018

Population genetics

Population genetics looks to understand how and why the frequencies of alleles and genotypes alter over time inside and between populations. It is the branch of science that gives the most profound and clearest understanding of how developmental alter happens. Population genetics is especially relevant nowadays within the growing journey to get it the basis for genetic variation in susceptibility to complex diseases. Population hereditary qualities are personally bound up with the study of advancement and natural selection and are regularly respected as the hypothetical cornerstone of cutting-edge Darwinism. This is because the natural selection is one of the foremost vital components that can influence a population's hereditary composition. Natural determination happens when a few variants in a population out-reproduce other variants as a result of being better adjusted to the environment, or ‘fitter’. 
Assuming the fitness differences are at least mostly due to hereditary differences, this will cause the population's hereditary makeup to be changed over time. 

By considering formal models of gene frequency alter, the developmental Process and
to allow the results of distinctive developmental hypotheses to be investigated in a quantitatively precise way.

Advances in molecular science have created an enormous supply of information on the hereditary inconstancy of genuine populations, which has empowered a link to be forged between unique population-genetic models and observational data. The status of populace hereditary qualities in modern science is an interesting issue. In spite of its centrality to evolutionary hypothesis, and its historical significance, populace hereditary qualities aren’t without its critics. Population-genetic models of advancement have too been censured on the grounds that few phenotypic characteristics are controlled by genotype at a single locus, or indeed two or three loci. 

In spite of the criticisms leveled against it, populace genetics has had a major impact on our understanding of how evolution works.