Category Archives: Transhuman News

This is a story of nature and nurture.

Scientists at the University of WisconsinMadisons Waisman Center have shown one way in which human genetics and chronic stress interact to shape health and well-being later in life.

According to the study, published recently in the American Journal of Medical Genetics: Neuropsychiatric Genetics, individuals who both have specific variations of a particular gene called fragile X mental retardation 1, or FMR1, and experience higher levels of stress throughout their adulthood face poorer health and more physical and cognitive challenges when older.

In this era of precision medicine, its vital that we understand why some people may have more health symptoms or functional limitations later in life than others, says Marsha Mailick, UWMadison vice chancellor for research and graduate education, Waisman Center investigator and lead author of the study.

Marsha Mailick

The FMR1 gene contains varying numbers of a DNA pattern called a CGG triplet repeat. The letters refer to nucleotides, which form the building blocks of DNA. In humans, the most common number of CGG repeats in this gene is 30. Repeat numbers higher than 200 lead to fragile X syndrome, a rare genetic condition that causes intellectual disability and behavioral, physical and learning challenges.

The researchers looked at CGG repeat numbers in more than 5,500 people drawn from the Wisconsin Longitudinal Study, a long-term study funded by the National Institutes of Health. They represented a random sample of men and women who graduated from Wisconsin high schools in 1957. All of them were parents and they averaged 71 years of age.

A subset of these parents had adult children with developmental or mental health disabilities; the rest had adult children who did not have chronic disabilities.

While all parenting is both stressful and joyful, parents of children with disabilities face some unique challenges throughout the lifespan, says Mailick. Over time the stress of parenting a child with disabilities can add up.

Mailick and her colleagues categorized parents of children with disabilities as a high-stress group and explored whether they faced more health challenges compared to a lower-stress group parents of children without disabilities.

The results were complex. Many of the parents in the high-stress group did show poorer health and well-being compared to the lower-stress group, but others did not. Whether the parents faced more physical and cognitive challenges when older was dependent on their numbers of FMR1 CGG repeats.

Parents in the high-stress group who also had either significantly more than or significantly fewer than 30 CGG repeats in their FMR1 gene were less healthy and faced more limitations in old age compared to parents of children without disabilities.

But for people with about 30 CGG repeats, their level of stress doesnt differentiate their health and wellbeing, says Mailick.

The researchers also found that in the lower-stress group, individuals with significantly more than or fewer than 30 CGG repeats actually had better health and fewer limitations than those with the normal number of CGG repeats.

This shows that its not only about genetics and not only about the environment, but how the two interact and together affect human health, says Mailick.

Researchers call this the flip-flop effect or differential susceptibility, where people with the same genetic background can have very different life outcomes depending on their environments.

Some people thrive in any environment, but others, with different genetic profiles, may find their health and well-being more susceptible to their circumstances and surroundings, says Mailick.

The study is also an example of how research that started by focusing on a rare genetic condition fragile X syndrome can lead to insights about variation in the general population, Mailick adds.

She would like to expand the study to a larger and more diverse population, and use new techniques and tools in population genetics and precision medicine to help. Our goal is to find out what we can do today to make tomorrow better, she says.

Other authors of the study include Paul Rathouz, chair of biostatistics and medical informatics at UWMadison, Jan Greenberg, associate vice chancellor for research and graduate education, Mei Baker at the Wisconsin State Lab of Hygiene, and Jinkuk Hong and Leann Smith DaWalt. All co-authors are affiliated with the UWMadison Waisman Center.

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Genetics and stress interact to shape human health and well-being - University of Wisconsin-Madison

Rarely mentioned by academics, is that the Ethiopian Jews historically owned slaves. Until the second half of the 20th century, Ethiopia was primarily an agricultural medieval society where slavery was a mainstream institution connected to the countrys agricultural system.

Primarily relocated from Ethiopia to Israel as part of Israeli rescue operations in the 1980s, the Ethiopian Jews today comprise a distinct minority of the Israeli nation. Their settlements were spread along the northwestern region and the border area with the Sudan. Thus, the Ethiopian Jews have always represented a border population and a peripheral entity of Abyssinia. Note that Abyssinia is the state and society that dominated the bulk of the geographical region of what is today Ethiopia.

While the Ethiopian Jews were referred to by the other Ethiopians as Falasha, meaning strangers, they traditionally referred to themselves as Beta Israel, meaning the House of Israel. From a historical standpoint, the term Beta Israel is more appropriate, and thus, is used in this article to label the community we know today as the Ethiopian Jews.

From a scientific perspective, the fact that the Beta Israel have owned slaves is particularly important when it comes to analyzing genetics. It demonstrates the fact that the group, as known today, is not as homogeneous as is often assumed. As I discussed in a previous article, the majority show physical features suggesting ancestries from populations originating in nearby regions, particularly the Nile Valley area of Northern Sudan. A minority resemble native Agaw populations from what is today northwestern Ethiopia. An even smaller minority who descended from former slavesand are the main subject of study in this articleshow distinctive West African physical features, as well as features of populations from nearby savanna regions like South Sudan.

Hagar Salamon, is the first researcher to investigate and publish work on the practice of slavery among the Beta Israel with considerable depth. In fact, Salamon has dedicated an entire chapter of her book The Hyena People titled Flesh and Bones: Jewish Masters, Jewish Slaves to this subject. Despite of her genuine efforts, Salamon has over-analyzed the subject. She goes as far as to introduce new vocabulary, such as flesh and bones, in order to explain the perception of slaves in the Abyssinian society. In reality, the slavery system in Abyssinia was much like theslavery system established in the Mediterranean basin and North America.

The slaves were either abducted or manipulated to leave their native lands to live in bondage. They were sold in open markets throughout Abyssinia. Even after Haile Selassie abolished slavery in 1942, the institution continuedunderground until the 1980s, particularly in the rural agricultural areas of the north.

After being bought, the slave was given a new name and forced to convert to the religion of the owner. Although the slaves of the Beta Israel underwent Jewish conversion rituals, they werent considered Jewish by their Beta Israel masters. But the conversion accomplished two things: First, itserved to further solidify the masters ownership. Second, it helpedestablish a religious basis for slavery.

As mentioned earlier, the slaves were brought from the very southern regions of what is today Ethiopia, south of the Abyssinian domain, and from savanna regions in what is today South Sudan. These victimized populations were primarily pagan and lived as small subsistent societies with limited or no contact with the outside world. An undefined percentage of the slaves were of West/Central African descent, an ethnic group called Barya, which settled in the eastern region of what is today South Sudan, perhaps as early as the 4th century CE; they were enslaved by the Abyssinians at a later date. Hence, it is no coincidence that the term Barya is used as a synonym to any slave in the Abyssinian society.

Abyssinian traditions describe the Barya, or slaves, with a broad set of physical features, including frizzy hair, harsh skin textures, wide noses, and muscular bodies. However, since a long time has passed subsequent to the abolition of slavery, and slaves were no longer imported, the current Barya are primarily the descendants of mixed relations with slave owners. Worth noting is that the mixed offspring of a free person and a Barya is still considered as an un-mixed Baryaas Salamon explains The smallest drop of barya blood would make the infant a barya.

A variety of social rules have regulated the life and restricted the freedoms of the Barya. In Beta Israel communities, for example, the Barya were not allowed to walk too close to religious scriptures. They also were prohibited from burying other Barya in Beta Israel cemeteries. Intermarriage between a Beta Israel and a Barya was strictly forbidden. However, male masters were free to exploit the female Barya as they wished.

The study on Beta Israel genetics that is commonly considered as the decisive scientific evidence on the origins of the Ethiopian Jews, was published in 1999 by Gerard Luctotte and Pierre Smets of the International Institute of Anthropology in Paris. The study has explicitly concluded that the Beta Israel are descended from ancient inhabitants of Ethiopia who converted to Judaism. This research has come to represent a popular scientific proof to the conventional theory established by James Quirin; that the Ethiopian Jews do not have an ancient Israelite ancestry.

It is worth noting that these studies do not take into consideration the genetic diversity that characterizes the Beta Israel population, as well as the outcome of this diversity in a probable Israelite genetic heritage. More importantly, and contrary to popular belief, genetic studies are inconclusive when it comes to determining the ancient origins of ethnic groups.

As part of a correspondence with Genetic Literacy Project founder Jon Entine, and author of the book Abrahams Children: Race, Identity, and the DNA of the Chosen People, I asked: Do genetic studies that seek to determine the ancient ancestries of populations produce results with 100% accuracy? He answered:

Good question. No, they are always guestimates. Its analyzing gene frequencies based on sometimes robust data but sometimes scanty data. A lot of it is story tellingnarratives suggested by the DNA from todays populations and recovered ancient resources. But it can be revised, and plenty of ancient narratives have been changed as new data have emerged.

Interestingly enough, and as I cited in a previous article, a later genetic studypublished by the American Journal of Human Genetics and reported by the BBC in 2012 on the ancient origins of Ethiopians concludes that Ethiopians mixed with Egyptian, Israeli or Syrian populations about 3,000 years ago.

Ibrahim M. Omer is a 3D Animation specialist with interest in the reconstruction of ancient historical settings. He has worked as an academic in the social science areas of linguistics, culture, andhistory. Twiter:@onguisaac.He is the author of the academic websiteAncientSudan.org.

For more background on the Genetic Literacy Project, read GLP on Wikipedia

Link:
Ethiopian Jewry: Genetics of the Beta Israel muddied by historical slave ownership - Genetic Literacy Project

In a study published today in PLoS ONE, a team of researchers reports solving a medical mystery in a days work. In record-time detective work, the scientists narrowed down the genetic cause of intellectual disability in four male patients to a deletion of a small section of the X chromosome that had not been previously linked to a medical condition.

Even with the current technological advances, solving medical mysteries such as this one usually entails a much longer period of research. We found it very interesting how fast we went from knowing nothing about the genetic cause of one patients condition, to discovering the cause and finding three more individuals with the same problems, said senior author Dr. Daryl A. Scott, associate professor of molecular and human genetics at Baylor College of Medicine. It took us a year to get all the documentation for writing and publishing the report, but the actual discovery was within hours. It was essential to our discovery that we had at our disposal technology to find and search genomic databases, and to connect electronically and exchange information with other researchers around the world.

Modern day medical detective work

It all began on a Thursday, Scotts day to visit patients with developmental disabilities in clinic. For one of the patients, a young male with intellectual disability, developmental delay, macrocephaly (enlarged head) and very flexible joints, our genetics lab indicated that the patient did not seem to have any known genetic changes that could explain his condition, said Scott. I saw a relatively small deletion in the X chromosome, identified as Xp11.22; it had only a few genes in it. The lab indicated that there had been no previous reports about this particular part of the genome causing any kind of medical problems.

Two of the genes in the deleted section of the patients X chromosome were MAGED1 and GSPT2. To have an idea of what these genes might do, I searched a database that describes the functions of genes in the mouse and found that mice that have a deletion of the Maged1 gene have neurocognitive behavioral abnormalities. This caught my interest as it related to my patients condition.

To make his case that deletions in Xp11.22 caused the clinical features of his patient, Scott needed to find more patients presenting similar clinical conditions and deletions. He searched two large genomic databases looking for more patients.

After searching the DECIPHER database, Scott found one patient carrying almost the exact same deletion as his patient, but there was no information about the individuals clinical problems. Scott immediately sent an electronic message to the physician, co-author Dr. Alex Henderson, at The Newcastle upon Tyne Hospitals in England, in order to learn more about the clinical characteristics of his patient.

Then, Scott contacted co-author Dr. Seema Lalani, associate professor of molecular and human Genetics at Baylor and assistant laboratory director of cytogenetics at Baylor Genetics. Lalani searched the Baylor Genetics database of 60,000 cases for patients with the deletion.

After carrying on this detective electronic work, Scott went to see his patient. By early afternoon, he was back in his office checking his email. He found a message from Henderson. He had two male patients (siblings) with the deletion, and intellectual disability, developmental delay and super mobile joints! Shortly after, Lalani informed Scott that co-author Dr. Patricia Evans, professor of pediatrics, neurology and neurotherapeutics at the University of Texas Southwestern Medical School in Dallas had a patient with the Xp11.22 deletion and the same clinical features as Scotts patient.

In a days work we identified four patients in two continents, involving 3 families and it was all put together within 8 hours, Scott said. None of the patients and their families had an explanation for the condition before this work. Our findings allowed us to provide them with a genetic diagnosis.

In every case the mothers are carriers for these deletions but they do not have any apparent symptoms, said Scott. Yet, they can have male children that have significant problems. With this information, we can say to the parents that they have a 50 percent chance of passing this X chromosome with the deletion to a male child. Female children have a 50 percent chance of being carriers. This represents a significant change for the parents; they can now make informed decisions about future family planning.

Other contributors of this work include Christina Grau, Molly Starkovich, Mahshid S. Azamian, Fan Xia and Sau Wai Cheung.

This work was supported by the National Institutes of Health/ National Institute of General Medical Sciences Initiative for Maximizing Student Development [R25 GM056929-16].

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Medical mystery solved in record time - Baylor College of Medicine News (press release)