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Archive for the ‘genetics’ category: Page 49

Jan 5, 2024

Understanding the role of a new enzyme in the development of autism spectrum disorder

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

Over the past decades, scientists have made substantial progress unveiling the underlying mechanisms behind many psychiatric disorders. Every year, new genetic mutations or protein dysregulations are identified as potential culprits for the symptoms and sometimes even the root causes of complex neurological diseases, including autism spectrum disorder (ASD), schizophrenia, and Alzheimer’s.

Despite these efforts, the precise roles of several proteins involved in remain obscure. Such is the case for indoleamine 2,3-dioxygenase 2 (IDO2), an enzyme expressed in the brain and metabolized by the tryptophan–kynurenine pathway (TKP).

Changes in the metabolites of this pathway have already been linked to many , and genetically modified mice have been invaluable tools in such studies. However, the detailed functions of IDO2 in the brain are not known.

Jan 4, 2024

Study finds previously unidentified genetic mutation in a small protein provides significant protection against Parkinson’s disease

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

In a recent study published in Molecular Psychiatry, researchers explored the effects of a small humanin-like peptide 2 (SHLP2) variant on mitochondrial function.

Mitochondria are implicated in Parkinson’s disease (PD) pathogenesis. Mitochondrial-derived peptides (MDPs) are microproteins encoded from small open reading frames (sORFs) in the mitochondrial DNA (mtDNA). SHLP2 is an MDP with an essential role in multiple cellular processes, and it improves mitochondrial metabolism by increasing biogenesis and respiration and reducing oxidation.

Recent studies link mitochondrial single nucleotide polymorphisms (mtSNPs) within coding regions of MDPs to age-related deficits. For instance, m.2706 A G, an mtSNP in humanin, predicts reduced circulating levels of humanin and worse cognitive decline. Moreover, another mtSNP, m.2158 T C, is associated with reduced PD risk, albeit the underlying mechanisms are unknown.

Jan 2, 2024

Dynamic refinement of behavioural restructure mediates dopamine-dependent credit assignment

Posted by in categories: genetics, neuroscience

Animals exhibit a diverse behavioral repertoire when exploring new environments and can learn which actions or action sequences produce positive outcomes. Dopamine release upon encountering reward is critical for reinforcing reward-producing actions1 3. However, it has been challenging to understand how credit is assigned to the exact action that produced dopamine release during continuous behavior. We investigated this problem with a novel self-stimulation paradigm in which specific spontaneous movements triggered optogenetic stimulation of dopaminergic neurons. Dopamine self-stimulation rapidly and dynamically changes the structure of the entire behavioral repertoire. Initial stimulations reinforced not only the stimulation-producing target action, but also actions similar to target and actions that occurred a few seconds before stimulation. Repeated pairings led to gradual refinement of the behavioral repertoire to home in on the target. Reinforcement of action sequences revealed further temporal dependencies of refinement. Action pairs spontaneously separated by long time intervals promoted a stepwise credit assignment, with early refinement of actions most proximal to stimulation and subsequent refinement of more distal actions. Thus, a retrospective reinforcement mechanism promotes not only reinforcement, but gradual refinement of the entire behavioral repertoire to assign credit to specific actions and action sequences that lead to dopamine release.

F.C. is the Director of Open Ephys Production Site.

Jan 1, 2024

Research at MSK unlocks new potentials in cancer treatment

Posted by in categories: biotech/medical, genetics

Memorial Sloan Kettering Cancer Center (MSK) has spearheaded revolutionary research unveiling groundbreaking strides in cancer treatment and understanding disease mechanisms.

Their discoveries include CAR T cell therapy targeting specific antigens in acute myeloid leukemia (AML), insights into the genetic element LINE-1, revelations on blood stem cell regulation, and a promising immunotherapy technique targeting CD47, showcasing potential breakthroughs in cancer therapy.

In the battle against acute myeloid leukemia (AML), traditional CAR T cell therapies faced hurdles due to varying antigens in AML cells and their similarity to normal blood stem cells, risking broader immune system damage.

Jan 1, 2024

A global dataset of pandemic- and epidemic-prone disease outbreaks

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

I believe nanomachines or new advanced rna antivirals that can target one’s own variants of viruses will be game changers to prevent future global pandemics. Also eventually new genetic engineering could allow for the end to all viruses with some sorta Omni vaccine.


Measurement(s) Pandemic-and epidemic-prone disease outbreaks Technology Type(s) Text mining using R Sample Characteristic — Organism Disease outbreaks Sample Characteristic — Environment spatiotemporal region Sample Characteristic — Location Global.

Dec 31, 2023

This years biggest breakthroughs in longevity (2023 edition)!!!

Posted by in categories: chemistry, genetics, life extension, sex

Every year I compile what I think were some important contributions to longevity research. Here is my list for 2023.\
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Find me on Twitter — / eleanorsheekey \
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Support the channel \
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Intro — 00:00\
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What causes aging? — 00:32\
Hallmarks Of Aging: An Expanding Universe \
The DREAM Complex Functions As Conserved Master Regulator Of Somatic DNA-Repair Capacities \
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Biomarkers — 02:00\
The Aging Biomarker Consortium Represents A New Era For Aging Research In China\
Longitudinal fundus imaging and its genome-wide association analysis provide evidence for a human retinal aging clock\
A Foundation Model For Generalizable Disease Detection From Retinal Images\
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Cellular reprogramming — 04:30\
Chemically induced reprogramming to reverse cellular aging\
Loss of epigenetic information as a cause of mammalian aging\
In vivo reprogramming leads to premature death linked to hepatic and intestinal failure\
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Lifespan extension — 07:30\
Astaxanthin and meclizine extend lifespan in UM-HET3 male mice; fisetin, SG1002 (hydrogen sulfide donor), dimethyl fumarate, mycophenolic acid, and 4-phenylbutyrate do not significantly affect lifespan in either sex at the doses and schedules used\
Taurine deficiency as a driver of aging\
Dietary supplementation of clinically utilized PI3K p110α inhibitor extends the lifespan of male and female mice\
Optogenetic Rejuvenation Of Mitochondrial Membrane Potential Extends C. Elegans Lifespan\
Reversal Of Biological Age In Multiple Rat Organs By Young Porcine Plasma Fraction\
Multi-Omic Rejuvenation And Life Span Extension On Exposure To Youthful Circulation\
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Biotechnology — 13:50\
Intravascularly infused extracellular matrix as a biomaterial for targeting and treating inflamed tissues\
Intradermally delivered mRNA-encapsulating extracellular vesicles for collagen-replacement therapy\
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Why we age — 15:15\
Ageing as a software design flaw\
The Longevity Bottleneck Hypothesis: Could Dinosaurs Have Shaped Ageing In Present‐Day Mammals?\
Reconsidering Life History Theory Amid Infectious Diseases\
Blood Group A Enhances SARS-CoV-2 Infection\
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What’s next? — 16:50\
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There are many items missing from this list — these are only the papers I found time to read. Please post below any I missed! \
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ICYMI\
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2022 longevity papers\
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2021 longevity papers\
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Please note that The Sheekey Science Show is distinct from Eleanor Sheekey’s teaching and research roles at the University of Cambridge. The information provided in this show is not medical advice, nor should it be taken or applied as a replacement for medical advice. The Sheekey Science Show and guests assume no liability for the application of the information discussed.\
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Icons in intro; \.

Dec 31, 2023

Telomere Length Test #7 in 2023: My Best Data Yet

Posted by in categories: genetics, life extension

Join us on Patreon! https://www.patreon.com/MichaelLustgartenPhDDiscount Links: Telomere, Epigenetic Testing: https://trudiagnostic.com/?irclickid=U-s3Ii2r7x

Dec 28, 2023

Ep. 20: J. Storrs Hall — Bringing Back A Future Past With Flying Cars, Nano-Robots and Multi-Level Cities By Nurturing A Techno-Optimist Culture and a Unleashing Second Nuclear Age

Posted by in categories: bioengineering, economics, genetics, information science, nanotechnology, robotics/AI

An interview with J. Storrs Hall, author of the epic book “Where is My Flying Car — A Memoir of Future Past”: “The book starts as an examination of the technical limitations of building flying cars and evolves into an investigation of the scientific, technological, and social roots of the economic…


J. Storrs Hall or Josh is an independent researcher and author.

Continue reading “Ep. 20: J. Storrs Hall — Bringing Back A Future Past With Flying Cars, Nano-Robots and Multi-Level Cities By Nurturing A Techno-Optimist Culture and a Unleashing Second Nuclear Age” »

Dec 27, 2023

Why ‘resurrection biology’ is gaining traction around the world

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

Resurrection biology — attempting to bring strings of molecules and more complex organisms back to life — is gaining traction in labs around the world.

The work is a far cry from the genetically engineered dinosaurs that escape in the blockbuster movie “Jurassic Park,” although for some scientists the ultimate goal is de-extinction and resurrecting animals and plants that have been lost.

Other researchers are looking to the past for new sources of drugs or to sound an alarm about the possibility of long-dormant pathogens. The field of study is also about recreating elements of human history in an attempt to better understand how our ancestors might have lived and died.

Dec 27, 2023

New Genomics Databases Could Drive Major Breakthroughs

Posted by in categories: biotech/medical, genetics

The projects are poised to offer unprecedented insights into human genetic diversity and improve treatment of disease.

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