Genetic mutations start after conception

Hundreds of minor genetic mutations start to form in the cells of an embryo after conception, some of these mutations occur as sex cells are forming in the embryo. That means they can become part of the embryo's genome and be passed on to the next generation.

This opens up a larger perspective on human development,  this shows that some of our genome does not come from our parents.These early genetic mutations are also similar to those found in cancers, cancers can occur as a normal byproduct of cell division, this mat be the causes of neurodevelopmental disorders such as schizophrenia or autism.

These conditions are primarily the result of genetic abnormalities, but no single gene inherited by parents has been found to cause a large number of cases.The study may also help explain why one identical twin might have a genetic disorder while the other is healthy, or why some members of a family who carry a disease-causing mutation do not get sick.
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DNA and RNA editing could heal many diseases

Scientists have discovered two gene editing techniques to fix mutations that cause diseases like cystic fibrosis and Duchenne muscular dystrophy. Both diseases, and about half all human genetic disorders, are caused by mutations in single letters in the human genome, in which an 'A' appears where there should be a 'B.'

The newly-developed gene editing systems can target the smallest units of human DNA or RNA to undo the mutation that causes cystic fibrosis. One system edits DNA in the genome itself, while the other targets RNA, which transports genetic messages for making proteins. The editing systems work in living cells, and if researchers can find ways to deliver them to human patients safely and effectively, they could be used to reverse the mutations that cause genetic diseases.

DNA and RNA contain four base components: adenine, thymine, guanine and cytosine. Cystic fibrosis is caused by an inherited genetic mutation that leads to abnormal mucus production in the lungs and digestive system. The thicker-than-normal mucus builds up in and blocks airways. It can be managed with breathing machines, inhalers and medications, but some affected by it will eventually need lung transplants. There is no cure for cystic fibrosis and it can be fatal.

Cystic fibrosis could be prevented or corrected if only there were a 'G' in the genome where the disease's victims have an 'A.' The new gene editing technologies could rewrite the part of the genome or its messenger that spells cystic fibrosis. The gene editing system is technically called the Adenine Base Editor, or ABE.

The ‘A’ in ABE is for ‘adenine,’ one of four chemical bases that are the smallest elements of our genomes. Adenine is always paired with thymine, and guanine is always paired with cytosine. ABE targets the ‘A,’ adenine, and rearranges its atoms to turn it into guanine. So, where there is an incorrect AT set of base pairs in the genome, ABE can reset it to a GC.

These genetic editors give scientists the remarkable ability to rewrite any mutated base pair in the genome. The gene editors are developments on the CRISPR technology which allows scientists to efficiently target and edit the genome.

RNA editing avoids interfering with the genome itself. Because RNA plays a communication role in humans, rather than being the fundamental genetic information itself, changes to it might be more flexible, and reversible.
However, RNA degrades over time, so the impermanence of changes to its component parts (called nucleoside bases) could be disadvantageous too.
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Links between protein and heart failure

Study on two specially bred strains of mice showed how abnormal addition of the phosphate to a specific heart muscle protein may sabotage the way the protein behaves in a cell, and may damage the way the heart pumps blood around the body. Different people may have more or less altered phosphorylation that might help patients who may benefit from targeted therapies.

A form of heart disease known as heart failure with preserved ejection fraction-the amount of blood squeezed out when the heart contracts impairs the heart's ability to quickly and efficiently relax between the heart beats and overworking the organ. Common symptoms of heart failure include shortness of breath, but those with the form in which the ejection fraction is preserved at baseline have particular difficulty when they try to increase their activity or exercise.

Heart failure with preserved
ejection fraction does not respond well to common heart failure medications. The condition is common in adults, though some children with genetic disorders of heart muscle proteins share features of this condition. Heart failure was associated with changes in heart muscle cells through altered phosphorylation in the heart muscle protein cardiac troponin I cTnI, which regulates heart contraction.

Researchers examined the function of the mouse hearts through echocardiography as well as measurements with tiny catheters placed in the heart compared to mice without this altered phosphorylation. At baseline the mice with hyperphosphorylation on this specific site experienced a longer time to heart relaxation and lower left ventricular peak filling rate (depressed diastolic function), but the amount of blood ejected during contraction was normal.

The researchers then stimulated both strains of mouse hearts with adrenaline to assess the impact of increased demand on the hearts. The mice with hyperphosphorylation had very limited ability to increase the ejection of blood from the heart compared to the controls in response to adrenaline. However, the mice with hyperphosphorylation did show some improvement in relaxation, though relaxation remained slower than controls at peak drug effect.

Researchers then subject both sets of mice to brief periods of reduced oxygen flow to the heart and then restored the flow of oxygen, they discovered that the hearts of mice with hyperphosphorylation were protected from this form of stress.
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