Menu

Blog

Archive for the ‘genetics’ category: Page 174

Sep 26, 2022

New study allows scientists to test therapeutics for rare neurodegenerative disease affecting young children

Posted by in categories: biotech/medical, genetics, neuroscience

For the first time, scientists will be able to test therapeutics for a group of rare neurodegenerative diseases that affect infants and young children, thanks to a new research model created by scientists at the University of Wisconsin-Madison. Their results are published in the Proceedings of the National Academy of Sciences.

Hereditary spastic paraplegias (HSPs) are a group of caused by . They lead tens of thousands of children to develop increased muscle tone in their lower extremities, causing weakness in their legs and ultimately affecting their ability to crawl or walk.

“Kids as early as six months of age that have these start to show signs of disease,” says Anjon Audhya, a professor in the Department of Biomolecular Chemistry at UW-Madison. “Between two and five years of age, these kids become wheelchair-bound, and they unfortunately will never be able to walk.”

Sep 26, 2022

Nanopore-based technologies beyond DNA sequencing

Posted by in categories: bioengineering, biotech/medical, chemistry, genetics, nuclear energy

Ideally, the nanopore dimensions should be comparable to those of the analyte for the presence of the analyte to produce a measurable change in the ionic current amplitude above the noise level. Nanopores can be formed in several ways, with a wide range of pore diameters. Biological nanopores are formed by the self-assembly of either protein subunits, peptides or even DNA scaffolds in lipid bilayers or block copolymer membranes1,3,6,17,18. They possess atomically precise dimensions controlled by biopolymer sequences, providing the ability to recognize biomolecules with constriction diameters of ~1–10 nm. Solid-state nanopores are crafted in thin inorganic or plastic membranes (for example, SiNx), which allows the nanopores to have extended diameters of up to hundreds of nanometres, permitting the entry or analysis of large biomolecules and complexes. The tools for fabricating solid-state nanopores, which include electron/ion milling4,5, laser-based optical etching19,20 and the dielectric breakdown of ultrathin solid membranes21,22, can be used to manipulate nanopore size at the nanometre scale, but allow only limited control over the surface structure at the atomic level in contrast to biological nanopores. The chemical modification and genetic engineering of biological nanopores, or the introduction of biomolecules to functionalize solid-state nanopores23, can further enhance the interactions between a nanopore and analytes, improving the overall sensitivity and selectivity of the device2,17,24,25,26. This feature allows nanopores to controllably capture, identify and transport a wide variety of molecules and ions from bulk solution.

Nanopore technology was initially developed for the practicable stochastic sensing of ions and small molecules2,27,28. Subsequently, many developmental efforts were focused on DNA sequencing1,7,8,9. Now, however, nanopore applications extend well beyond sequencing, as the methodology has been adapted to analyse molecular heterogeneities and stochastic processes in many different biochemical systems (Fig. 1). First, a key advantage of nanopores lies in their ability to successively capture many single molecules one after the other at a relatively high rate, which allows nanopores to explore large populations of molecules at the single-molecule level in reasonable timeframes. Second, nanopores essentially convert the structural and chemical properties of the analytes into a measurable ionic current signal, even achieving enantiomer discrimination29. The technology can be used to report on multiple molecular features while circumventing the need for labelling chemistries, which may complicate the overall analysis process and affect the molecular structures. For example, nanopores can discriminate nearly 13 different amino acids in a label-free manner, including some with minute structural differences30. An important aspect is the ability of nanopores to identify species31 that lack suitable labels for signal amplification or whose information is hidden in the noise of analytical devices. Consequently, nanopores may serve well in molecular diagnostic applications required for precision medicine, which achieves the identification of nucleic acid, protein or metabolite analytes and other biomarkers11,32,33,34,35. Third, nanopores provide a well-defined scaffold for controllably designing and constructing biomimetic systems, which involve a complex network of biomolecular interactions. These nanopore systems track the binding dynamics of transported biomolecules as they interact with nanopore surfaces, hence serving as a platform for unravelling complex biological processes (for example, the transport properties of nuclear pore complexes)36,37,38,39. Fourth, chemical groups can be spatially aligned within a protein nanopore, providing a confined chemical environment for site-selective or regioselective covalent chemistry. This strategy has been used to engineer protein nanoreactors to monitor bond-breaking and bond-making events40,41.

Here we discuss the latest advances in nanopore technologies beyond DNA sequencing and the future trajectory of the field, as well as the opportunities and main challenges for the next decade. We specifically address the emerging nanopore methods for protein analysis and protein sequencing, single-molecule covalent chemistry, single-molecule analysis of clinical samples and insights into the use of biomimetic pores for analysing complex biological processes.

Sep 25, 2022

5 Cutting-Edge Medical Experiments Could Expand Our Organ Supply, From Gene-Edited Pigs to Artificial Embryos

Posted by in categories: biotech/medical, genetics

Organs are in short supply. About 17 people die each day waiting for a transplant. New experimental methods of growing and tweaking organs could help.

Sep 25, 2022

Resting Heart Rate And Heart Rate Variability: What’s Optimal, 1,502 Days of Data

Posted by in categories: biotech/medical, genetics

Join us on Patreon!
https://www.patreon.com/MichaelLustgartenPhD

Quantify Discount Link (At-Home Blood Testing)
https://getquantify.io/mlustgarten.

Continue reading “Resting Heart Rate And Heart Rate Variability: What’s Optimal, 1,502 Days of Data” »

Sep 25, 2022

Super-Men and Wonder-Women: the Relationship Between the Acceptance of Self-enhancement, Personality, and Values

Posted by in categories: biotech/medical, employment, genetics, neuroscience, transhumanism

Since the beginning of human storytelling, enhancing oneself to a “better version” was of vital interest to humans. A twenty-first century-philosophical movement called transhumanism dedicated itself to the topic of enhancement. It unites discussions from several disciplines, e.g. philosophy, social science, and neuroscience, and aims to form human beings in desirable ways with the help of science and technology (Bostrom, 2005; Loh, 2018; More, 2013). Enhancement is the employment of methods to enhance human cognition in healthy individuals (Colzato et al., 2021), thereby extending individual performance above already existing abilities. It should thus be distinguished from therapy, which is the application of methods to help individuals with illnesses or dysfunctions in restoring their abilities (Viertbauer & Kögerler, 2019). Although enhancement methods bear psychological implications, there is hardly any psychological research on them. However, as the use of enhancement methods has increased (Leon et al., 2019; McCabe et al., 2014), and with it the demand for official guidelines (Jwa, 2019), it is necessary to examine who would use these methods in the first place, especially because these technologies can easily be misused. Investigating personality traits and values of individuals who want to enhance themselves could not only support suppliers and manufacturers of enhancement technologies in creating guidelines for using enhancement, but also raise more general awareness on which individuals might be in favour of enhancement.

In previous studies investigating the intersection between enhancement and personality traits or values, vignettes were used to describe enhancement methods and to measure their acceptance among participants (e.g. Laakasuo et al., 2018, 2021). Thus, subjects were asked to read scenarios involving the use of a certain enhancement method and then—as a measure of acceptance—judge aspects (e.g. the morality) of the action undertaken in the corresponding scenario (e.g. Laakasuo et al., 2018, 2021). In the present study, we followed a similar vignette-based approach with a variety of different enhancement methods to investigate the link between the acceptance of enhancement (i.e., the willingness to use enhancement methods, hereinafter termed AoE), personality traits, and values. More specifically, we examined the acceptance of the most discussed cognitive enhancement methods: pharmacological enhancement, brain stimulation with transcranial electrical stimulation and deep brain stimulation, genetic enhancement, and mind upload (Bostrom, 2003; Dijkstra & Schuijff, 2016; Dresler et al., 2019; Gaspar et al., 2019; Loh, 2018).

Pharmacological enhancement has received much attention in the media and literature (Daubner et al., 2021; Schelle et al., 2014) and is defined as the application of prescription substances that are intended to ameliorate specific cognitive functions beyond medical indications (Schermer et al., 2009). The best-known drugs for cognitive enhancement are methylphenidate (Ritalin®), dextroamphetamine (Adderall®), and modafinil (Provigil®), which are usually prescribed for the treatment of clinical conditions (de Jongh et al., 2008; Mohamed, 2014; Schermer et al., 2009).

Sep 24, 2022

Researchers Have Found A Way To Regrow Teeth

Posted by in categories: biotech/medical, genetics

O.o! Circa 2021


False teeth could one day be a thing of the past, thanks to the discovery of an antibody that sparks the regeneration of lost teeth. By inhibiting the action of a gene called USAG-1, the antibody increases the availability of certain growth factors, and could eventually be used to help people grow a new set of pearly whites.

Publishing their work in the journal Science Advances, a team of researchers describes how they genetically modified mice to suffer from tooth agenesis, where some teeth fail to develop. Injecting pregnant mice from this line with the USAG-1 antibody, however, resulted in normal tooth development among their offspring. Moreover, a single administration of the antibody caused the growth of a whole new tooth in regular mice.

Continue reading “Researchers Have Found A Way To Regrow Teeth” »

Sep 24, 2022

New genetically engineered herpes virus kills cancer cells

Posted by in categories: biotech/medical, genetics

A genetically modified version of the herpes virus has shown great potential in treating advanced cancers, according to a report by the Institute of Cancer Research in London published on Thursday.

A promising therapy

Although the treatment is still in early trials, researchers have found that RP2, a modified version of the herpes simplex virus, managed to kill cancer cells in a quarter of patients. The patients had cancers so advanced and complicated that they had run out of treatments to try.

Sep 24, 2022

Salk scientists modify CRISPR to epigenetically treat diabetes, kidney disease, muscular dystrophy

Posted by in categories: bioengineering, biotech/medical, genetics

Circa 2017 face_with_colon_three


LA JOLLA—Salk scientists have created a new version of the CRISPR/Cas9 genome editing technology that allows them to activate genes without creating breaks in the DNA, potentially circumventing a major hurdle to using gene editing technologies to treat human diseases.

Continue reading “Salk scientists modify CRISPR to epigenetically treat diabetes, kidney disease, muscular dystrophy” »

Sep 24, 2022

Affecting Up to 216,000 Studies — Popular Genetic Method Found To Be Deeply Flawed

Posted by in categories: biotech/medical, genetics, information science

According to recent research from Sweden’s Lund University, the most commonly used analytical method in population genetics is deeply flawed. This could have caused incorrect results and misconceptions regarding ethnicity and genetic relationships. The method has been used in hundreds of thousands of studies, influencing findings in medical genetics and even commercial ancestry tests. The findings were recently published in the journal Scientific Reports.

The pace at which scientific data can be gathered is increasing rapidly, resulting in huge and very complex databases, which has been nicknamed the “Big Data revolution.” Researchers employ statistical techniques to condense and simplify the data while maintaining the majority of the important information in order to make the data more manageable. PCA (principal component analysis) is perhaps the most widely used approach. Imagine PCA as an oven with flour, sugar, and eggs serving as the input data. The oven may always perform the same thing, but the ultimate result, a cake, is highly dependent on the ratios of the ingredients and how they are mixed.

“It is expected that this method will give correct results because it is so frequently used. But it is neither a guarantee of reliability nor produces statistically robust conclusions,” says Dr. Eran Elhaik, Associate Professor in molecular cell biology at Lund University.

Sep 24, 2022

A genetically encoded tool to increase cellular NADH/NAD+ ratio in living cells

Posted by in categories: biotech/medical, genetics, life extension

Impaired reduction/oxidation (redox) metabolism is a key contributor to the etiology of many diseases, including primary mitochondrial disorders, cancer, neurodegeneration, and aging. However, mechanistic studies of redox imbalance remain challenging due to limited strategies which can perturb cellular redox metabolism and model pathology in various cellular, tissue, or organismal backgrounds without creating additional and potentially confounding metabolic perturbations. To date, most studies involving impaired redox metabolism have focused on oxidative stress and reactive oxygen species (ROS) production; consequently, less is known about the settings where there is an overabundance of reducing equivalents, termed reductive stress. NADH reductive stress has been modeled using pharmacologic inhibition of the electron transport chain (ETC) and ethanol supplementation. Still, both these methods have significant drawbacks. Here, we introduce a soluble transhydrogenase from E. coli (Ec STH) as a novel genetically encoded tool to promote NADH overproduction in living cells. When expressed in mammalian cells, Ec STH, and a mitochondrially-targeted version (mito Ec STH), can elevate the NADH/NAD+ ratio in a compartment-specific manner. Using this tool, we determine the metabolic and transcriptomic signatures of NADH reductive stress in mammalian cells. We also find that cellular responses to NADH reductive stress, including blunted proliferation, are dependent on cellular background and identify the metabolic reactions that sense changes in the cellular NADH/NAD+ balance. Collectively, our novel genetically encoded tool represents an orthogonal strategy to perturb redox metabolism and characterize the impact on normal physiology and disease states.

The authors have declared no competing interest.