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The new study has found the genes that significantly increase a persons risk of developing multiple sclerosis (MS) were introduced into north-western Europe around 5,000 years ago by sheep and cattle herders migrating from the east.

Credit: SayoStudio

Researchers have created the worlds largest ancient human gene bank by analysing the bones and teeth of almost 5,000 humans who lived across western Europe and Asia up to 34,000 years ago.

By sequencing ancient human DNA and comparing it to modern-day samples, the international team of experts mapped the historical spread of genes and diseases over time as populations migrated.

The astounding results have been revealed in four trailblazing research papers published today (10 January 2024) in the same issue of Nature and provide new biological understanding of debilitating disorders.

The extraordinary study involved a large international team led by Professor Eske Willerslev at the Universities of Cambridge and Copenhagen, Professor Thomas Werge at the University of Copenhagen, and Professor Rasmus Nielsen at University of California, Berkeley and involved contributions from 175 researchers from around the globe.

The scientists found:

Northern Europe has the highest prevalence of multiple sclerosis in the world. A new study has found the genes that significantly increase a persons risk of developing multiple sclerosis (MS) were introduced into north-western Europe around 5,000 years ago by sheep and cattle herders migrating from the east.

By analysing the DNA of ancient human bones and teeth, found at documented locations across Eurasia, researchers traced the geographical spread of MS from its origins on the Pontic Steppe (a region spanning parts of what are now Ukraine, South-West Russia and the West Kazakhstan Region).

They found that the genetic variants associated with a risk of developing MS travelled with the Yamnaya people - livestock herders who migrated over the Pontic Steppe into North-Western Europe.

These genetic variants provided a survival advantage to the Yamnaya people, most likely by protecting them from catching infections from their sheep and cattle. But they also increased the risk of developing MS.

It must have been a distinct advantage for the Yamnaya people to carry the MS risk genes, even after arriving in Europe, despite the fact that these genes undeniably increased their risk of developing MS, said Professor Eske Willerslev, jointly at the Universities of Cambridge and Copenhagen and a Fellow of St Johns College, an expert in analysis of ancient DNA and Director of the project.

He added: These results change our view of the causes of multiple sclerosis and have implications for the way it is treated.

The age of specimens ranges from the Mesolithic and Neolithic through the Bronze Age, Iron Age and Viking period into the Middle Ages. The oldest genome in the data set is from an individual who lived approximately 34,000 years ago.

The findings provide an explanation for the North-South Gradient, in which there are around twice as many modern-day cases of MS in northern Europe than southern Europe, which has long been a mystery to researchers.

From a genetic perspective, the Yamnaya people are thought to be the ancestors of the present-day inhabitants of much of North-Western Europe. Their genetic influence on todays population of southern Europe is much weaker.

Previous studies have identified 233 genetic variants that increase the risk of developing MS. These variants, also affected by environmental and lifestyle factors, increase disease risk by around 30 percent. The new research found that this modern-day genetic risk profile for MS is also present in bones and teeth that are thousands of years old.

These results astounded us all. They provide a huge leap forward in our understanding of the evolution of MS and other autoimmune diseases. Showing how the lifestyles of our ancestors impacted modern disease risk just highlights how much we are the recipients of ancient immune systems in a modern world, said Dr William Barrie, a postdoc in the University of Cambridges Department of Zoology and co-author of the paper.

Multiple sclerosis is a neurodegenerative disease in which the bodys immune system mistakenly attacks the insulation surrounding the nerve fibres of the brain and spinal cord. This causes symptom flares known as relapses as well as longer-term degeneration, known as progression.

Professor Lars Fugger, a co-author of the MS study professor and consultant physician at John Radcliffe Hospital, University of Oxford, said: This means we can now understand and seek to treat MS for what it actually is: the result of a genetic adaptation to certain environmental conditions that occurred back in our prehistory.

Professor Astrid Iversen, another co-author based at the University of Oxford, said: We now lead very different lives to those of our ancestors in terms of hygiene, diet, and medical treatment options and this combined with our evolutionary history means we may be more susceptible to certain diseases than our ancestors were, including autoimmune diseases such as MS.

The Lundbeck Foundation GeoGenetics Centre the resource underpinning the discoveries

The new findings were made possible by the analysis of data held in a unique gene bank of ancient DNA, created by the researchers over the past five years with funding from the Lundbeck Foundation.

This is the first gene bank of its kind in the world and already it has enabled fascinating new insights in areas from ancient human migrations, to genetically-determined risk profiles for the development of brain disorders.

By analysing the bones and teeth of almost 5,000 ancient humans, held in museum collections across Europe and Western Asia, the researchers generated DNA profiles ranging across the Mesolithic and Neolithic through the Bronze Age, Iron Age and Viking period into the Middle Ages. They compared the ancient DNA data to modern DNA from 400,000 people living in Britain, held in the UK Biobank.

Creating a gene bank of ancient DNA from Eurasias past human inhabitants was a colossal project, involving collaboration with museums across the region, said Willerslev.

He added: Weve demonstrated that our gene bank works as a precision tool that can give us new insights into human diseases, when combined with analyses of present-day human DNA data and inputs from several other research fields. That in itself is amazing, and theres no doubt it has many applications beyond MS research.

The team now plans to investigate other neurological conditions including Parkinsons and Alzheimers diseases, and psychiatric disorders including ADHD and schizophrenia.

They have received requests from disease researchers across the world for access to the ancient DNA profiles, and eventually aim to make the gene bank open access.

The research was funded by a 8M grant from the Lundbeck Foundation, and conducted at the Lundbeck Foundation Geogenetics Centre at the University of Copenhagen.

Jan Egebjerg, Director of Research at theLundbeck Foundation, said: "The rationale for awarding such a large research grant to this project, as the Lundbeck Foundation did back in 2018, was that if it all worked out, it would represent a trail-blazing means of gaining a deeper understanding of how the genetic architecture underlying brain disorders evolved over time. And brain disorders are our specific focus area."

Experimental study

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Elevated Genetic Risk for Multiple Sclerosis Originated in Steppe Pastoralist Populations

10-Jan-2024

Excerpt from:
Ancient DNA reveals reason for high multiple sclerosis and Alzheimer's rates in Europe - EurekAlert

University of Oxford researchers have contributed to a study which used ancient DNA to identify the earliest known people to have suffered from various genetic disorders affecting the number of sex chromosomes. The findings have been published today in Communications Biology.

Aneuploidy occurs when a persons cells have an extra or missing chromosome. If this occurs in the sex chromosomes, this can cause differences such as delayed development or changes in height around puberty.

Led by the Francis Crick Institute, the research team developed a new technique to measure the number of chromosomes in ancient genomes more precisely. In this way, they identified:

To overcome this, the team developed a computational method which counts the number of copies of X and Y chromosomes and compares the outcome to a predicted baseline (what one would expect to see).

The team used the new method to analyse ancient DNA from a large dataset of individuals collected as part of the Thousand Ancient British Genomes project across British history, identifying six individuals with aneuploidies across five sites in Somerset, Yorkshire, Oxford, and Lincoln. The individuals lived across a range of time periods, from the Iron Age (2500 years ago) up to the Post-Medieval Period (about 250 years ago).

They identified five people who had sex chromosomes which fell outside of the XX or XY categories. All were buried according to their societys customs although no possessions were found with them to shed more light on their lives.

By investigating details on the bones, the research team could see that it was unlikely that the individual with Turner syndrome had gone through puberty and started menstruation, despite their estimated age of 18-22. Their syndrome was shown to be mosaic: some cells had one copy of chromosome X and some had two.

Co-author of the study Rick Schulting, Professor of Scientific and Prehistoric Archaeology at the University of Oxford, said: The results of this study open up exciting new possibilities for the study of sex in the past, moving beyond binary categories in a way that would be impossible without the advances being made in ancient DNA analysis.

The study Detection of chromosomal aneuploidy in ancient genomes has been published inCommunications Biology.

The study was led by the Francis Crick Institute and involved archaeologists from the University of Oxford, the Wells and Mendip Museum, University of York, University of Bradford, Oxford Archaeology, York Osteoarchaeology, and Network Archaeology. It was supported by Lincolnshire County Council, Magdalen College, and Balfour Beatty for National Highways.

Read the original post:
New technique identifies earliest cases of genetic disorders from ancient DNA - University of Oxford

Researchers trying to find better drugs for MS now have a better idea of what theyre up against when it comes to certain autoimmune diseases. As explained by Lars Fugger, a neurologist at the University of Oxford who was involved in the study, scientists are trying to undo 5,000 years of evolutionary honing.

Unfortunately, the research doesnt offer a roadmap for how to design new and better drugs. But Lugger suggests that the work might at least point to a better way. Current MS therapies generally work by damping down the immune system, but given that these mutations arose to protect us, perhaps the better approach would be to recalibrate immune cells activity rather than shutting them down altogether.

Ideally, with these data in hand and eventually made available to other researchers an exploration other health conditions will unfold. The signal of risk wont always be as clear and meaningful as with MS, but there are plenty of diseases where this type of data can be used to solidify hypotheses and illuminate biology.

As that work evolves, the field must do better a job of expanding the study of ancient (and modern) DNA beyond Europe and North America. Although all humans are genetically very similar, our evolutionary pasts might differ and, as this MS paper nicely highlights, those histories can affect our understanding of current health issues.

Some of the focus on European ancestors is practical. Ancient DNA is better preserved in colder, drier climates, making it harder to extract useful genetic information from samples in, for example, the tropics. But researchers say funding for projects in less-represented populations has lagged significantly.

The problem is not limited to ancient DNA. Much of the work in modern genetics has been devoted to studying people outside of North America and Europe. Asgari points out that 80 per cent of large genetic studies focus on populations of European ancestry, yet that group makes up just 18 per cent of the global population.

While the field has become far better at acknowledging these knowledge and resource gaps, more needs to be done to close them. Each region has diseases that might be better understood by comparing ancient and modern DNA. Asgari points to sickle cell disease, which is believed to have arisen as a protection against malaria, or the high prevalence of diabetes in the Middle East, as areas that deserve the same kind of study.

Theres still so much to learn about the human genome. Well learn more, faster, if we cast a wider net.

Disclaimer: The views expressed above are the author's own. They do not necessarily reflect the views of DH.

Originally posted here:
Ancient DNA could be hiding all kinds of health secrets - Deccan Herald

Researchers have created the worlds largest ancient human gene bank by analysing the bones and teeth of almost 5,000 humans who lived across western Europe and Asia up to 34,000 years ago.

By sequencing ancient human DNA and comparing it to modern-day samples, the international team of experts mapped the historical spread of genes and diseases over time as populations migrated.

The astounding results have been revealed in four trailblazing papers published in the journal Nature and provide new biological understanding of debilitating disorders.

The study involved a large international team led byProfessor Eske Willerslevat the Universities of Cambridge and Copenhagen,Professor Thomas Wergeat the University of Copenhagen, andProfessor Rasmus Nielsenat University of California, Berkeley, with contributions from 175 researchers from around the globe. They found:

Future analysis is hoped to reveal more about the genetic markers of autism, ADHD, schizophrenia, bipolar disorder, and depression.

Northern Europe has the highest prevalence of multiple sclerosis in the world.

The new study foundthe genes that significantly increase a persons risk of developing multiple sclerosis (MS) were introduced into north-western Europe around 5,000 years ago by sheep and cattle herders migrating from the east.

By analysing the DNA of ancient human bones and teeth, found at documented locations across Eurasia, researchers traced the geographical spread of MS from its origins on the Pontic Steppe (a region spanning parts of what are now Ukraine, South-West Russia and the West Kazakhstan Region).

They found that the genetic variants associated with a risk of developing MS travelled with the Yamnaya people livestock herders who migrated over the Pontic Steppe into North-Western Europe.

These genetic variants provided a survival advantage to the Yamnaya people, most likely by protecting them from catching infections from their sheep and cattle. But they also increased the risk of developing MS.

It must have been a distinct advantage for the Yamnaya people to carry the MS risk genes, even after arriving in Europe, despite the fact that these genes undeniably increased their risk of developing MS. These results change our view of the causes of multiple sclerosis and have implications for the way it is treated.

Professor Eske Willerslev, jointly at the Universities of Cambridge and Copenhagen, Fellow of St Johns College, expert in analysis of ancient DNA and Director of the project.

The age of specimens ranges from the Mesolithic and Neolithic through the Bronze Age, Iron Age and Viking period into the Middle Ages. The oldest genome in the data set is from an individual who lived approximately 34,000years ago.

The findings provide an explanation for the North-South Gradient, in which there are around twice as many modern-day cases of MS in northern Europe than southern Europe, which has long been a mystery to researchers.

From a genetic perspective, the Yamnaya people are thought to be the ancestors of the present-day inhabitants of much of North-Western Europe. Their genetic influence on todays population of southern Europe is much weaker.

Previous studies have identified 233 genetic variants that increase the risk of developing MS. These variants, also affected by environmental and lifestyle factors, increase disease risk by around 30 percent. The new research found that this modern-day genetic risk profile for MS is also present in bones and teeth that are thousands of years old.

These results astounded us all. They provide a huge leap forward in our understanding of the evolution of MS and other autoimmune diseases. Showing how the lifestyles of our ancestors impacted modern disease risk just highlights how much we are the recipients of ancient immune systems in a modern world.

Dr William Barrie, postdoc in the University of Cambridges Department of Zoology and first author of the MS study.

Multiple sclerosis is a neurodegenerative disease in which the bodys immune system mistakenly attacks the insulation surrounding the nerve fibres of the brain and spinal cord. This causes symptom flares known as relapses as well as longer-term degeneration, known as progression.

The material in this press release comes from the originating research organization. Content may be edited for style and length. Want more? Sign up for our daily email.

Continue reading here:
Ancient DNA reveals reason for high MS and Alzheimer's rates in Europe - ScienceBlog.com

NEW DELHI: Ten years after initiating proceedings on a PIL seeking DNA profiling of all unidentified bodies, the Supreme Court was back at square one as it sought Union government's response afresh on a PIL on the same issue - DNA profiling of unidentified bodies - after being told that a bill on this subject has been withdrawn from Parliament. In 2014, the SC had issued notices to ministry of home affairs, CBI and secretary, department of scientific and industrial research on a PIL by Lokniti Foundation, which had said that absence of a national DNA database is impeding identification of nearly 40,000 bodies that are found across the country every year. After dealing with the PIL for four years, the SC on May 1, 2018 had disposed of the PIL as government had then promised to bring a bill in the monsoon session of Parliament for DNA profiling to enable maintaining records of unidentified and unclaimed bodies or missing persons. Government did introduce a bill on use of DNA technology in 2018 and it was passed by the Lok Sabha. However, it lapsed in 2019 and a new bill on this subject was re-introduced in July 2019. It was sent to the standing committee. During the pendency of the DNA bill, Parliament enacted Criminal Procedure (Identification) Act, 2022 which authorised police and prison authorities to collect biological samples, including DNA, of persons arrested, detained, under-trial or convicted in a criminal case. On July 24 last year, government withdrew from Lok Sabha the DNA Technology (Use and Application) Regulation Bill, 2019, citing the enactment of the 2022 law. But Congress and opposition parties had criticised the move saying the BJP-led NDA government did not want to incorporate the privacy safeguards suggested by the standing committee. On Tuesday, a bench of Chief Justice D Y Chandrachud, and Justices J B Pardiwala and Manoj Misra sought response from government on a PIL filed by advocate Kishan Chand Jain, seeking use of DNA technology to profile unidentified bodies to help relatives identify their near and dear ones who had gone missing. However, before entertaining the PIL, the bench observed that whether to enact a law is completely within the prerogative of Parliament and the courts cannot intervene in this field. To this, Jain said that he was not on the issue of directing the government to move a bill to this effect, but on use of DNA technology to make it easier for relatives to identify a body.

See more here:
Supreme Court seeks government's view on DNA profiling of unidentified bodies - IndiaTimes

MOSCOW - According to documents filed this week, Judge John Judge says Bryan Kohberger's defense team will receive some of the DNA records requested from the prosecution.

Kohberger is accused of murder in connection with the stabbing deaths of Ethan Chapin, Madison Mogen, Xana Kernodle, and Kaylee Goncalves at a home near the University of Idaho campus in November of 2022.

"The Court has now completed its review of the information provided by the State and orders the State to discover to the defense a portion of the IGG information. The specific material to be provided is set forth in a sealed order to protect the privacy of the IGG information, including individuals on the family tree," says a court order signed by Judge John Judge on Thursday.

IGG is short for "investigative genetic genealogy." IGG evidence was used to name Kohberger as suspect after he allegedly left a Ka-Bar knife sheath containing DNA evidence at the crime scene.

IGG involves comparing DNA from a crime scene to data from commercial online genealogy services that are often used by consumers to investigate their family tree. Defense attorneys for Kohberger have tried several times to obtain the evidence, but were unsuccessful prior to this week.

See the original post:
Prosecution Ordered to Release Portion of DNA Evidence to Kohberger's Defense Team - bigcountrynewsconnection.com

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Judge orders more DNA disclosure in University of Idaho murder case - KXLY Spokane