Genetics & Molecular Biology

Huntington’s disease

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Huntington disease is a progressive brain disorder that causes uncontrolled movements, emotional problems, and loss of thinking ability. Most people with Huntington’s disease develop signs and symptoms in their 30s or 40s. An autosomal dominant neurodegenerative disease caused by expansion of a CAG trinucleotide repeat in HTT, resulting in an extended polyglutamine tract in Huntington. Every child of a parent with HD has a 50/50 chance of inheriting the expanded gene that causes the disease.

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The Y chromosome

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The Y is one of the smallest chromosomes in the human genome around ∼ 60 Mb and represents around 2%–3% of a haploid genome. Males possess one X and one Y chromosome and females have two Xs. The presence or absence of the Y chromosome is what determines sex-the Y chromosome contains several genes key to testes formation. Some scientists hypothesize that the chromosome is largely indispensable and could shrink entirely. Scientists also confirmed that there is relatively sparse protein-coding material within the Y and a high degree of repetition, the finding that more than half of the active genes are expressed in non-gonadal tissue throughout the body has brought the Y to the forefront of research on men’s susceptibility to disease.

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A Coxiella mutualist symbiont that helps to develop Rhipicephalus microplus

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The cattle tick Rhipicephalus microplus is a hematophagous ectoparasite that causes essential financial misfortunes in animals. Diverse types of ticks harbor a symbiont bacterium of the family Coxiella. It was demonstrated that a Coxiella endosymbiont from R. microplus (CERM) is a vertically transmitted mutualist symbiont, including 98% of the 16S rRNA arrangements in the two eggs and hatchlings. Sequencing of the bacterial genome uncovered qualities for biosynthetic pathways for a few vitamins and key metabolic cofactors that may give a dietary supplement to the tick have. The CERM was inexhaustible in ovary and Malpighian tubule of completely engorged female. Antibiotic medication treatment of either the tick or the vertebrate host lessened levels of microscopic organisms in descendants in 74% for eggs and 90% for hatchlings without real effect neither on the regenerative wellness of the grown-up female or on incipient organism improvement. Notwithstanding, CERM ended up being basic for the tick to achieve the grown-up life arrange, as under anti-toxin treatment no tick could advance past the metanymph organize.

Focusing on mutant p53 for proficient cancer treatment

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The tumor suppressor gene TP53 is the most mutated gene in cancer. Wild-sort p53 can smother tumor advancement by numerous pathways. Nonetheless, mutation of TP53 and the resultant inactivation of p53 permit avoidance of tumor cell passing and fast tumor movement. The high recurrence of TP53 transformation in tumors has provoked endeavors to reestablish ordinary capacity of mutant p53 and in this manner trigger tumor cell demise and tumor disposal. Small molecules that can reactivate missense-mutant p53 protein have been recognized by various procedures, and two mixes are being tried in clinical trials. Novel methodologies for focusing on TP53 gibberish transformations are likewise in progress.

Diabetes during pregnancy affect baby’s heart

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Scientists have discovered how high glucose levels — whether caused by diabetes or other factors — keep heart cells from maturing normally. Their findings help explain why babies born to women with diabetes are more likely to develop congenital heart disease. When developing heart cells are exposed to high levels of glucose, the researchers found, the cells generate more building blocks of DNA than usual, which leads the cells to continue reproducing rather than mature.  Babies born to women with high levels of glucose in their blood during pregnancy are two to five times more likely to develop the disorder than other babies. However, researchers have never been able to define the precise effect of glucose on the developing fetus. It was also discovered that, when exposed to extra glucose, the cardiomyocytes(heart muscle cells) over-activated the pentose phosphate pathway — a cellular process that, among other things, generates nucleotides, the building blocks of DNA. In cells with high glucose levels, the pentose phosphate pathway made more nucleotides than usual. The scientists showed that the excess of building blocks kept the cells from maturing.

Morbid Obesity and Psychiatric Disorders Hiding a Sex Aneuploidy: A Case of Late Diagnosis of 48,XXYY Syndrome

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48,XXYY syndrome is a rare sex chromosomal aneuploidy due to the addition of an extra X and Y chromosome to the 46,XY full-length karyotype. Originally described in 1960 as a variant of Klinefelter syndrome, to which it is phenotypically similar in many respects, it is now considered a distinct clinical and genetic entity, differentiating from the former due to a greater intellectual and psychiatric affectation. In newborn screening studies, Klinefelter syndrome (47,XXY) is the most common chromosomal abnormality in human beings, with a prevalence of approximately 1:650 male births, whereas the 48,XXYY syndrome has a prevalence of 1:18.000 – 1:50.000.

For more: https://www.scitechnol.com/peer-review/morbid-obesity-and-psychiatric-disorders-hiding-a-sex-aneuploidy-a-case-of-late-diagnosis-of-48xxyy-syndrome-mz9T.php?article_id=6614

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Chlorpyrifos Resistance Characteristics of Culex pipiens (Diptera: Culicidae) from Northern Tunisia

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In addition to their nuisance in urban areas, Culex pipiens is the suspected vector in the transmission of West Nile Virus in Tunisia. In order to be able to use insecticides in vector control, the target species must be effectively sensitive to these products under field conditions. Laboratory tests have been commonly recorded resistance to insecticides in many vector populations throughout the world. These resistances can be due to the detoxification of the product by enzymes or to a mutation at the targeted site: the sodium channel for DDT and pyrethroids (kdr) or acetylcholinesterase (AChE 1) for organophosphates (OP) and carbamates. Because of their lack of accumulation in the organism, OPs including chlorpyrifos have been used on a large scale since 1935 as insecticides in place of organochlorines.

For more: https://www.scitechnol.com/peer-review/chlorpyrifos-resistance-characteristics-of-culex-pipiens-diptera-culicidae-from-northern-tunisia-ysQr.php?article_id=6617

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