Mom exhausted after giving birth, but as soon as she looks down—’ is this my baby?’
By Epoch Uplift
Catherine and Richard Howarth, from England, were a happy newlywed couple when they learned that they were expecting a baby boy.
Richard was pale with reddish hair and Catherine was of Nigerian descent; all of her relatives were darker skinned compared to her, and everyone was looking forward to the adorable baby.
They could not have known they were actually blessed with a one in a million baby!
After a long labour in the maternity wing of the hospital in Milton Keynes, Catherine was already exhausted and “so drowsy on the narcotics.”
So when the mother looked down and saw her child for the first time, she could not believe what she was seeing.
“I looked and said: ‘Is this, my baby?’”
Richard, 34, the father of baby boy Jonah, was just as astonished as his wife.
Richard is white and Catherine is black – and the bundle of joy they had just received was white as well! And as it should turn out later—not only is Jonah white, he also has bright blue eyes!
“They placed Jonah on Catherine’s stomach and that was when I saw him first and then they gave him to Catherine,” the young father reflected on the precious moment of seeing his son for the first time.
It was hard to believe for everyone in the maternity ward at first and Catherine even had to ask the midwife: “You sure this is my baby? Is this my baby?”
The well-experienced midwife just laughed and said “Yes, yes! Of course, it’s yours!”
Of course, they were happy with having a healthy baby boy and Catherine said she just instantly fell in love with the little fellow.
“I looked and I said, ‘wow!’ ” she said. You know, as a first-time mother I said wow I can’t believe I created him. And I just fell in love with him instantly.”
It is common that babies from a mixed-race couple appear to be brighter at birth, but Catherine noted that Jonah’s ears are just as white as his face and hands. The ears are normally the indicator that gives the actual skin colour away.
The couple consulted with Dr Emily Grossman, who specializes in genetics, to solve the mystery of Jonah’s skin colour. The precious baby boy just resembles his mother’s features perfectly but has his father’s skin tone.
“The doctor’s said that it was a one in a million chance. There is one explanation that could explain why that would be,” Dr Grossman commented on the spectacular case.
“Contrary to eye colour, skin colour is controlled by up to 20 different genes rather than just one as with eye colour—each of which has a small effect on colour. You have almost infinite combinations of different colours from two different coloured parents,” she explained. “It is totally, totally by chance.”
The Howarths really had been blessed with a one in a million baby!
Catherine added,”We get so much attention just walking down the street. We always get stopped by people asking. First of all: he is such a cute baby. You should put him into baby modelling.”
The proud young mother sighed,”The first question they ask is: is he really yours? And they want to know the story straight away!”
But the proud parents are fine with the growing interest in their infant son as “he loves the attention. He is a very smiley baby. He loves different faces and is very sociable” Catherine said.
Scientists have revealed the origins of a mysterious skeleton long thought to have been extra-terrestrial.
After five years of examination, a research team unravelled the genetic make-up of the bizarre specimen found in the Atacama Desert in 2003, and nicknamed “Ata”.
Led by researchers at the University of California, San Francisco and Stanford University, forensic analysis of the remains revealed they undoubtedly belonged to a human, albeit one with severe and previously unknown genetic mutations.
The skeleton, which was discovered in a leather pouch behind an abandoned church and has been dated approximately to the 1970s, has been the subject of intense speculation among online alien enthusiasts ever since it was revealed to the world.
Standing at 15 centimetres tall, the skeleton has an elongated skull, slanted eye sockets and only 10 pairs of ribs instead of the usual 12.
Despite its tiny stature, the bone development of the skeleton matches that of a six-year-old child.
Since its initial discovery, Ata was sold on to the black market and eventually passed into the hands of a Spanish businessman.
Dr Garry Nolan, a microbiologist at Stanford University, first heard of the specimen through a friend and resolved to get to the bottom of its mysterious origins.
“You can’t look at this specimen and not think it’s interesting; it’s quite dramatic,” said Dr Nolan.
“So I told my friend, ‘Look, whatever it is, if it’s got DNA, I can do the analysis.”
After contacting the makers of a documentary about Ata, Dr Nolan and his colleagues were given the opportunity to undertake just such an analysis.
Having examined the remains, they concluded the skeleton undoubtedly belonged to a female human foetus with a mix of Native American and European ancestry, although the reason for her unusual appearance remained unknown.
For the next stage of the investigation, Dr Atul Butte joined the team to help understand exactly what genetic factors resulted in the specimen’s appearance.
Earlier analysis had demonstrated that the Ata skeleton had plenty of high-quality DNA for modern sequencing technology to unravel.
Using cutting-edge techniques, the scientists found rare mutations linked to dwarfism and a variety of other bone and growth disorders.
The investigation also revealed four genetic mutations presumed to be involved with bone diseases, all of which were previously unknown to science.
These mutations are the cause of both Ata’s unusual appearance and the premature ageing of her bones, which made her appear much older than she really was.
“When doctors perform analyses for patients and their families, we’re often searching for one cause – one super-rare or unusual mutation that can explain the child’s ailment. But in this case, we’re pretty confident that multiple things went wrong,” said Dr Butte.
The results of this analysis were published in the journal Genome Research.
Besides solving a 15-year-old mystery, the scientists say the success of their project could be useful for modern medicine as well and points to ways in which complex living cases can be handled.
“The phenotype, the symptoms and size of this girl were extremely unusual, and analysing these kinds of really puzzling, old samples teaches us better how to analyse the DNA of kids today under current conditions,” said Dr Nolan.
“For me, what really came of this study was the idea that we shouldn’t stop investigating when we find one gene that might explain a symptom. It could be multiple things going wrong, and it’s worth getting a full explanation, especially as we head closer and closer to gene therapy,” said Dr Butte.
“We could presumably one day fix some of these disorders.”
As Ata is definitely not an alien, and her remains are probably no more than 40 years old, Dr Nolan said he hoped one day she would be given a proper burial.
“We now know that it’s a child, and probably either a pre- or post-term birth and death,” he said.
“I think it should be returned to the country of origin and buried according to the customs of the local people.” (The Independent)
Psychopaths sometimes have a genetic predisposition that makes them the way they are.
There are some biological differences in the brains of psychopaths compared to the general population.
Other research suggests that it is someone’s upbringing that has an impact on whether they become a psychopath.
It’s likely to be a mixture of nature and nurture that turns someone into a psychopath, and they’re likely to use both to their advantage to manipulate others.
Psychopaths are thought to make up about 1% of the population, and an even higher percentage of people have psychopathic, narcissistic, and sociopathic traits, such as an inflated sense of self or a lack of emotion.
Whether psychopaths are born or made over time, though, is a grey area.
Some scientific literature suggests there is a strong genetic component to these traits.
The genes that make us unfeeling or narcissistic are often selected in evolution because they have benefits, especially if you are in a profession where a cool head is paramount. A higher than average amount of CEOs tends to be psychopaths, for instance.
Perpetua Neo, a therapist and specialist in dark triad personality types, told Business Insider: “Evolution doesn’t care about how altruistic you are, or how much good you do.”
“Evolution only cares that the genes are passed on and they fit a certain environment. So because of that, it can’t really weed out psychopaths and narcissists.”
Because of this, these genes are likely to always persist in the population. So, instead of focusing on attempting to fix people, Neo says it is better to teach people how to recognise red flags for psychopathic behaviours, heal ourselves from any predispositions on being attracted to them, and run “fast and far.”
In his research, he found that many psychopaths show distinctive patterns of brain activity.
He used MRI scanners to examine the brain activity of dozens of people thought to be psychopaths and found that there tended to be reduced activity in the areas that play roles in regulating emotions, impulses, morality, and aggression.
However, Neo says your DNA isn’t the deciding factor in everything. The same genes in different people can be expressed differently thanks to something called epigenetics. Also, negative behaviours can be learned — or even rewarded — in childhood, leading to them being practised more often.
For instance, sometimes children are brought up with a psychopathic or narcissistic parent. In these cases, the child may grow up thinking they can only get attention and resources by being manipulative.
A study in 2013, published in the European Journal of Psychotraumatology, explored the relationship between early childhood neglect and abuse, and the likelihood of scoring higher on the psychopathic scale.
The researchers assessed 22 offenders convicted of violent crimes aged 22 to 60 and used the “Traumatic Experience Checklist” to analyse the level of childhood relational trauma they had experienced. This information was then compared to where the offenders landed on the psychopathic scale, using the “Hare Psychopathy Checklist,” developed by criminal psychologist Robert Hare.
The team concluded that psychopathy may be linked to a history of trauma, particularly in the more severe violent offenders.
Another study, published in the journal Psychological Medicine, examined 333 males and females to see how maternal and paternal bonding and childhood physical abuse had an impact on developing a psychopathic personality at age 28. It also looked at whether children separated from their parents in the first 3 years of life were more likely to be psychopaths 25 years later.
The researchers found that disrupted parental bonding was associated with an increased level of adult psychopathy, with a lack of maternal care being the most important aspect.
“Childhood physical abuse was also associated with psychopathy, but evidence from regression analyses suggests that bonding is more primary than abuse,” the researchers wrote. In other words, neglect at a young age appeared to have more of a connection with an adult psychopathic personality than being physically assaulted as a child.
Parents divorcing could also have an impact on whether psychopathic traits become more pronounced.
Disruptive experiences like a divorce could generate symptoms of Post Traumatic Stress Disorder on par with “big T” trauma events such as abuse, according to one study published in the British Journal of Psychiatry.
Neo said that children who take on these experiences sometimes deal with them by becoming manipulative and learning how to play parents off against each other.
“Some kids, they know how to cry at the drop of a hat, and smile when they get their way,” Neo said. “And the things that they say to play one parent against another, or one parent against an individual, is really well orchestrated.”
However, that’s not the full story. Other children are predisposed to acting a certain way, regardless of their parental situation or how they were brought up.
“There was this study that I read about this subsection of kids who are extremely cruel, and extremely deviant,” said Neo. “From a young age, psychopathic children tend to torture animals for fun.”
“We’ve all done things like catch a dragon fly, or a cockroach, but you read stories about how pre-psychopathic children do things like kidnapping dogs or cats, and slowly dissecting them alive, just to see what’s happening,” Neo added.
“They do it with this cold, detached ability that you don’t see in normal kids who have empathy.”
One case study, reported in The Atlantic, involved a child called Samantha (a fake name), who began exhibiting some worrying behaviours at about age six. She made a “book about how to hurt people” which included drawings of murder weapons like knives, poison chemicals, and a plastic bag to be used for suffocation.
Samantha was adopted by her parents at age two, who already had five biological children of their own. When one of their youngest children was still a baby, Samantha tried to strangle him, just to see what would happen.
“People with such obvious psychopathic, callous behaviours at a young age, after repeated incidents in a family, tend to be institutionalised,” Neo said. “But those who learn to not have such extreme behaviours — they trickle down through the cracks.”
Over time as they grow up, these people find themselves in certain environments which reward their psychopathic traits and behaviours, according to Neo.
“Their psychopathic behaviour muscles or narcissistic behaviour muscles get stronger, and it becomes wired in them as a pattern of being, and it becomes a personality,” she said.
The answer isn’t simple
Where nature or nurture is more of a factor in becoming a psychopath is not fully understood, and much of the research in the area points out the need for further study.
What is known is how psychopaths manipulate the people around them. Neo says they are often familiar with the fact they have had a troubled past, and they use this information to get people to do what they want.
For example, it can be incredibly hard to cut psychopathic people out of our lives, because we know they have had a tough time, so we feel sorry for them.
“Unfortunately, they do not empathise with us,” Neo said. “Their main modus operandi is ‘How do I get the kicks out of hurting someone?’ or ‘How do I get this attention out of making someone suffer?” So inherently, this relationship you have — whether it’s romantic, friendship, or otherwise — is asymmetrical. (Business Insider)
Researchers from the University of Texas Southwestern Medical Center accidentally stumbled upon this explanation for baldness and graying hairs-at least in mouse models-while studying a rare genetic disease that causes tumors to grow on nerves, according to a press release from the center.
They found that a protein called KROX20 switches on skin cells that become a hair shaft, which then causes cells to produce another protein called stem cell factor. In mice, these two proteins turned out to be important for baldness and graying. When researchers deleted the cells that produce KROX20, mice stopped growing hair and eventually went bald; when they deleted the SCF gene, the animals’ hair turned white.
“Although this project was started in an effort to understand how certain kinds of tumors form, we ended up learning why hair turns gray and discovering the identity of the cell that directly gives rise to hair,” said lead researcher Dr. Lu Le, associate professor of dermatology at the University of Texas Southwestern Medical Center, in a statement.
More research is needed to understand if the process works similarly in humans, and Le and his colleagues plan to start studying it in people. “With this knowledge, we hope in the future to create a topical compound or to safely deliver the necessary gene to hair follicles to correct these cosmetic problems,” he said. (TIME)
Summary: Researchers discover rare variants in chromosomes 4 and 7 are not only associated with extremely long lives, but also with reduced risk for Alzheimer’s and cardiovascular disease.
The search for the genetic determinants of extreme longevity has been challenging, with the prevalence of centenarians (people older than 100) just one per 5,000 population in developed nations.But a recently published study by Boston University School of Public Health and School of Medicine researchers, which combines four studies of extreme longevity, has identified new rare variants in chromosomes 4 and 7 associated with extreme survival and with reduced risks for cardiovascular and Alzheimer’s disease.
The results, published in the Journals of Gerontology: Biological Sciences, highlight the importance of studying “truly rare survival, to discover combinations of common and rare variants associated with extreme longevity and longer health span,” the authors said.
The research group, led by Paola Sebastiani, professor of biostatistics the BU School of Public Health (BUSPH), created a consortium of four studies — the New England Centenarian Study, the Long Life Family Study, the Southern Italian Centenarian Study, and the Longevity Gene Project – to build a large sample of 2,070 people who survived to the oldest one percentile of survival for the 1900 birth year cohort. The researchers conducted various analyses to discover longevity-associated variants (LAVs), and to characterize those LAVs that differentiated survival to extreme age.
Their analysis identified new “extreme longevity-promoting variants” on chromosomes 4 and 7, while also confirming variants (SNPs, or single nucleotide polymorphisms) previously associated with longevity.
In addition, in two of the datasets where researchers had age-of-onset data for age-related diseases, they found that certain longevity alleles also were significantly associated with reduced risks for cardiovascular disease and hypertension.
“The data and survival analysis provide support for the hypothesis that the genetic makeup of extreme longevity is based on a combination of common and rare variants, with common variants that create the background to survive to relatively common old ages (e.g. into the 80s and 90s), and specific combinations of uncommon and rare variants that add an additional survival advantage to even older ages,” the authors wrote.
They said, however, that while the “yield of discovery” in the study was more substantial than in prior genome-wide association studies (GWAS) of extreme longevity, it remained disappointing, in that the two most significant genotypes discovered “are carried by a very small proportion of the cases included in the analysis,” meaning that much of the genetic variability around extreme lifespan remains unexplained.
“We expect that many more uncommon genetic variants remain to be discovered through sequencing of centenarian samples,” they wrote. “Larger sample sizes are needed to detect association of rare variants. . . and therefore promising associations that miss the threshold for genome-wide significance are important to discuss.”
ABOUT THIS NEUROSCIENCE RESEARCH ARTICLE
BU co-authors on the study include: Stacy Andersen, assistant professor of medicine at BUSM and study manager of the New England Centenarian Study; Thomas Perls, professor of medicine and geriatrics at BUSM and principal investigator of the New England Centenarian Study; and Anastasia Gurinovich, of the BU Bioinformatics Program.
Funding: The study was supported by funding from the National Institute on Aging, the National Heart Lung Blood Institute, and the William Wood Foundation.
Source: Lisa Chedekel – Boston University Medical Center Image Source: NeuroscienceNews.com image is in the public domain. Original Research:Abstract for “Four Genome-Wide Association Studies Identify New Extreme Longevity Variants” by Paola Sebastiani, Anastasia Gurinovich, Harold Bae, Stacy Andersen, Alberto Malovini, Gil Atzmon, Francesco Villa, Aldi T. Kraja, Danny Ben-Avraham, Nir Barzilai, Annibale Puca, and Thomas T. Perls in Journals of Gerontology: Biological Sciences. Published online March 15 2017 doi:10.1093/gerona/glx027
Four Genome-Wide Association Studies Identify New Extreme Longevity Variants
The search for the genetic determinants of extreme human longevity has been challenged by the phenotype’s rarity and its nonspecific definition by investigators. To address these issues, we established a consortium of four studies of extreme longevity that contributed 2,070 individuals who survived to the oldest one percentile of survival for the 1900 U.S. birth year cohort. We conducted various analyses to discover longevity-associated variants (LAV) and characterized those LAVs that differentiate survival to extreme age at death (eSAVs) from those LAVs that become more frequent in centenarians because of mortality selection (eg, survival to younger years). The analyses identified new rare variants in chromosomes 4 and 7 associated with extreme survival and with reduced risk for cardiovascular disease and Alzheimer’s disease. The results confirm the importance of studying truly rare survival to discover those combinations of common and rare variants associated with extreme longevity and longer health span.
A new study reveals those with the ‘night owl’ variant of the CRY1 gene have longer circadian cycles than other people, making them stay awake for longer at night.
Source: Rockefeller University.
If you’ve been a night owl all your life and mornings are your nemesis, you may be able to blame a gene mutation for all those late nights.
Researchers at The Rockefeller University have discovered that a variant of the gene CRY1 slows the internal biological clock — called the circadian clock — that normally dictates when you feel sleepy each night and when you’re ready to wake. People with the “night owl” variant of this gene have a longer circadian cycle than most, making them stay awake later, the team reported April 6 in Cell.
“Compared to other mutations that have been linked to sleep disorders in just single families worldwide, this is a fairly impactful genetic change,” says senior author Michael W. Young, the Richard and Jeanne Fisher Professor and head of Rockefeller’s Laboratory of Genetics. According to the new research, the mutation may be present in as many as one in 75 people in some populations.
Diagnosing night owls
The Centers for Disease Control and Prevention estimate that between 50 and 70 million adults in the US have a sleep or wakefulness disorder. These conditions–ranging from insomnia to narcolepsy–can predispose people to chronic diseases including diabetes, obesity, and depression.
People who self-categorize as night owls are often diagnosed with delayed sleep phase disorder (DSPD). Their 24 hour sleep-wake cycle is delayed, making them energetic long after most people have fallen asleep.
Going to bed late has its downsides: most people with DSPD are forced to wake up before their bodies tell them to in order to make it to work or school on time, leading not only to insomnia early in the night, but also to fatigue during the day.
Free-running sleep cycles
Young’s lab has studied the circadian clock for more than three decades, identifying a number of the genes involved in keeping flies, humans, and other animals on schedule when it comes to eating and sleeping.
To find out whether mutations in any known circadian genes were linked to DSPD, Young- – along with research associate Alina Patke, the first and co-corresponding author of the new paper — collaborated with sleep researchers at Weill Cornell Medical College. Subjects were asked to spend two weeks in a laboratory apartment that was isolated from all cues to the time of day, eating and sleeping whenever they were inclined. Researchers also collected skin cells from each person.
Most people will follow a roughly 24 hour sleep-wake cycle when put in such a free-run environment. However, a DSPD subject that caught the researcher’s interest not only stayed up late, but had a cycle that was about 30 minutes longer. Moreover, changes in body temperature and hormones that cycle along with the circadian clock–including melatonin, which helps regulate sleep — were also delayed.
“Melatonin levels start to rise around 9 or 10 at night in most people,” says Young. “In this DSPD patient that doesn’t happen until 2 or 3 in the morning.”
A patient points the way
When the researchers examined the DNA from the DSPD patient, one variant stood out; a mutation in CRY1, a gene that had already been implicated in the circadian cycle.
In a healthy circadian clock, a handful of genes turn on and off over a 24 hour cycle. The protein made by CRY1 is normally responsible for suppressing some of these genes during certain parts of the cycle. But Young and Patke discovered that the mutation identified in the patient made the CRY1 protein more active than usual, keeping other clock genes switched off for a longer period of time.
The researchers reached out to other members of the patient’s family and discovered five relatives who shared the mutation in CRY1. All of them had signs of DSPD, or a history of persistent sleep problems, too.
Then, Young’s team turned to large genetic databases from around the world to determine the prevalence of CRY1 mutations. With a collaborator in Turkey, they first identified many unrelated families and dozens of Turkish people with the CRY1 mutation. After contacting them and administering interviews and questionnaires, the researchers were able to confirm that 38 people with the mutation had altered sleep behavior, while none of their relatives without the CRY1 mutation had unusual sleep patterns.
Finally, after scouring larger genetic databases for CRY1 mutations, Young’s group calculated that as many as one in 75 people of non-Finnish European descent have at least one copy of the DSPD mutation. The mutation is dominant, which means that having just one copy of it can cause a sleep disorder.
Burning the midnight oil
The researchers say that right now there’s no established benefit for DSPD patients in being tested for the CRY1 mutation.
“Just finding the cause doesn’t immediately fix the problem,” says Patke. “But it’s not inconceivable that one might develop drugs in the future based on this mechanism.”
For now, many DSPD patients are able to control their sleep cycles — and get to bed earlier than their body wants — by following strict schedules.
“It’s a bit like cigarette smoking in that there are things we can do to help the problem before turning to drugs,” says Young. Some patients seem to be helped by getting strong light exposure during the day, he adds.
The team already has future studies planned to work out whether CRY1 mutations also affect the metabolic cycles of people with DSPD, since the human circadian cycle is known to not only regulate sleep, but also hunger and levels of metabolites and hormones.