Genetic Mutations In Father ’s Sperm Can Predict Children’s Autism Risk

There’s no question that autism can be traced to a combination of genetic and environmental factors. One genetic contributor in particular has in recent years intrigued scientists studying autism: DNA mutations originating in fathers’ sperm. Studies have linked autism risk to de novo mutations, or changes in DNA that arise spontaneously in sperm as the germline cell develops, or in the embryo after fertilization. Researchers estimate that such mutations might be involved in anywhere from 10% to 30% of autism cases, and that the older a father is at the time of conception, the higher the chance his sperm will result in de novo mutations that can contribute to autism spectrum disorder. In fact, with every decade of life, the number of de novo mutations in sperm doubles. In a new study published in Nature Medicine, researchers led by a team at the University of California, San Diego (UCSD) set out to determine if they could match specific disease-causing genetic mutations in the DNA of children with autism to the same mutations in their fathers’ sperm. The team analyzed DNA from eight sets of fathers and children. In the children, they looked for a phenomenon called mosaicism, which are genetic differences even among cells from the same person. Each time a cell divides, the process can generate mutations, or genetic mistakes—some can be harmful (for example, some can lead to cancer), but most are not because they occur outside of important genes in what ...
Source: TIME: Health - Category: Consumer Health News Authors: Tags: Uncategorized Autism Brain Source Type: news

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In this study we tried to explore Diazepam as a repurposed drug and tested it in Neuroblastoma (Neuro 2a) cells. Diazepam loaded Poly Lactic Acid Nanoparticles were developed (D-PLA-NPs) using nanoprecipitation method. Entrapment efficiency was found to be ± 99.7% and drug loading was ± 12.88%. The particle size developed was 188.8 nm and zeta potential was −25.6 millivolt. Dissolution profiles were studied in PBS (pH 7.4) or simulated media, almost 50% release was observed within 6 h. In vitro, cytotoxicity was analyzed using MTT assay where dose-dependent cytotoxicity was observed for developed D-PLA-NPs.
Source: Materials Today: Proceedings - Category: Materials Science Source Type: research
Abstract Two novel electrochemiluminescence (ECL) deoxyribosensors are designed for assay of early lung cancer biomarker (NAP2) using the DNA three-way junction (DNA-TWJ) inserted NAP2 binding aptamer between two double-helical stems and labeled with ruthenium (II) complex (Ru) (NBAT-Ru) taken as molecular recognition element. The signal-off ECL deoxyribosensor was fabricated by covalently coupling the 5'-NH2-(CH2)6-NBAT-Ru to glassy carbon electrode surface modified with 4-aminobenzoic acid (4-ABA). After combining NAP2 and NBAT-Ru, the changed conformation of NBAT-Ru altered the distance between Ru complex and e...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
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Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
Abstract Development of a mitochondria-targeting fluorescent probe with large Stokes shift and long-wavelength emission was benefit for accurate detection of hypoxic status, which was known as a major factor of the tumor physiology and influence important pathological processes. However, an efficient optical approach for simultaneously achieving such merits was still lacking. In this work, a turn-on fluorescence probe (HBT-NP) was designed to assess the hypoxic condition of tumor cells by detecting nitroreductase (NTR). Probe HBT-NP was constructed by conjugating 4-nitrobenzyl moiety as reaction site for NTR to 2-...
Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
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Source: Analytica Chimica Acta - Category: Chemistry Authors: Tags: Anal Chim Acta Source Type: research
Publication date: July 2020Source: Radiation Physics and Chemistry, Volume 172Author(s): A.S. Mustaqim, N.Z. Yahaya, N.N.A. Razak, H. ZinAbstractThe cancer treatment modalities have been developed rapidly with the aim to maximize the absorbed dose toward the cancer cells while sparing the healthy tissues. The use of high atomic number, Z nanomaterials has become interest as it offers the possibilities such as destroying cancer tumor with minimal damage to the healthy tissues. The study aimed to evaluate the role of methylene blue as it reduced the self-polymerization as well as to measure the dose enhancement effect of Zin...
Source: Radiation Physics and Chemistry - Category: Physics Source Type: research
Our world has never witnessed a time of greater promise for improving human health. Many of today’s health advances have stemmed from a long arc of discovery that begins with strong, steady support for basic science. In large part because of fundamental research funded by the National Institutes of Health (NIH), which traces its roots to 1887, Americans are living longer, healthier lives. Life expectancy for a baby born in the U.S. has risen from 47 years in 1900 to more than 78 years today. Among the advances that have helped to make this possible are a 70% decline in the U.S. death rate from cardiovascular disease ...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized Healthcare medicine Source Type: news
Alec L. W. Dick1, Khen Khermesh2, Evan Paul1, Fabian Stamp1, Erez Y. Levanon3 and Alon Chen1,4*1Department of Stress Neurobiology and Neurogenetics, Max Planck Institute of Psychiatry, Munich, Germany2CytoReason, Tel-Aviv, Israel3The Mina and Everard Goodman Faculty of LifeSciences, Bar-Ilan University, Ramat-Gan, Israel4Department of Neurobiology, Weizmann Institute of Science, Rehovot, IsraelAdenosine-to-inosine (A-to-I) RNA editing is a co-/posttranscriptional modification of double-stranded RNA, catalyzed by the adenosine deaminase acting on RNA (ADAR) family of enzymes, which results in recognition of inosine as guano...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
When Nichelle Obar learned she was pregnant with her second child last year, she never expected that her pregnancy, or her baby, would make history. But when the 40-year-old food-and-beverage coordinator from Hawaii and her fiancé Christopher Constantino went to their 18-week ultrasound, they learned something was wrong. The heart was larger than it should have been, and there was evidence that fluid was starting to build up around the organ as well. Both were signs that the fetus was working extra hard to pump blood to its fast-growing body and that its heart was starting to fail. Obar’s doctor knew what coul...
Source: TIME: Science - Category: Science Authors: Tags: Uncategorized medicine Source Type: news
Left-handedness, as a relatively uncommon phenomenon, never fails to fascinate people. There is a common perception that left-handed people are more talented and artistic. To what extent these assumptions are correct, and what your preferred use of right or left hand can tell you about your brain structure? Handedness represents the better performance or preference of using one hand, i.e., the dominant hand. Right-handedness is the most common type observed in 70–95% of the world population, followed by left-handedness, and then a very rare type of mixed handedness and ambidexterity. Although this is an important ph...
Source: World of Psychology - Category: Psychiatry & Psychology Authors: Tags: Brain and Behavior Brain Blogger Publishers Brain Structure Handedness left-handed right-handed Source Type: blogs
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