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.

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.

Causes:
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.

Symptoms:
<>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.

Diagnosis:
<>Neurofibromatosis is diagnosed using a number of tests, including:
<>Physical examination
<>Medical history
<>Family history
<>X-rays
<>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

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.