science
The Science Behind Relationships; Humans Media explores the basis of our attraction, contempt, why we do what we do and to whom we do it.
Cosmic Bloom: The Awakening Within
Mis-splicing of ASD-risk genes in DM1 prefrontal cortex Executive functions are coordinated by the prefrontal cortex, which undergoes transcriptome-wide changes in individuals with ASD25,34. We looked at RNA sequencing (RNA-seq) data from Brodmann area 10 (BA10) of the human DM1 brain to see if the DMPK-CTGexp mutation causes ASD-risk gene RNA mis-splicing in the prefrontal cortex. To reduce age and sex biases, unaffected control samples were matched (Fig. 1a)35,36,37. We calculated the change in "percent spliced in" (PSI) for five AS event types for differential AS analysis (Fig. 1b). 1 percent (1,844) of the 184,000 AS events and 16,000 genes in DM1 met our mis-splicing criteria (PSI > 0.1, FDR 0.05) out of the total pool of 7 percent (1,261) of mis-spliced genes (Extended Data Fig. 1a). All mis-spliced events, including retained intron (RI) events, had a strong positive correlation between CTGexp repeat length and mean PSI values (Fig. 1c and Extended Data Fig. 1b). Consistent with previous research, we observed a negative correlation between the level of intron inclusion and the steady-state level of the host transcript (Extended Data Fig. 1c)38,39, despite the fact that not all RIs introduce a premature termination codon that causes nonsense-mediated decay. We retrieved 38 gene sets and available databases to assess the relevance of DM1 mis-splicing to ASD (Supplementary Table 1), and found that some mis-spliced RI events represented additional RNA species, such as an elevated circular intronic RNA level in DM1 (Extended Data Fig. 1d). After applying more stringent mis-splicing criteria (|PSI| > 0.2), we discovered a significant enrichment of mis-spliced events in 61% of the gene sets (Extended Data Fig. 1e), indicating a consistent trend (Pearson's r = 0.79, P 0.0001). Negative control gene sets (such as genes related to the immune system or metabolism) did not show any enrichment. Notably, the Simons Foundation Autism Research Initiative (SFARI) database and two large Autism Speaks MSSNG-based whole-genome sequencing studies, MSSNG-2017 (ref. 40) and MSSNG-2022 (ref. 40), both showed significant enrichment of ASD-risk genes. 41) (Fig. 1d and Fig. 1e of the Extended Data). SCN2A, ANK2, and SHANK2 were misspliced in DM1 out of 36 overlapping high-confidence ASD-risk genes in both the MSSNG-2017 and MSSNG-2022 studies (Fig. 1e, f, and Extended Data Fig. 1f). In addition, we discovered missplicing in the DMD gene, which is known to be the cause of Duchenne muscular dystrophy and ASD42,43. In addition, we found a strong positive correlation between misspliced events in ASD-risk genes and CTGexp length (Fig. 1g and Extended Data Fig. 1g). These findings, taken as a whole, suggested that the DMPK-CTGexp in the DM1 prefrontal cortex alters the splicing of genes associated with ASD risk.
By Mahafuj Alam2 years ago in Humans
MBNL Sequestration Links Myotonic Dystrophy to Autism via RNA Mis-Splicing
Abstract Autism spectrum disorder has been linked to enrichment of gene-specific tandem repeat expansions across the genome. The CTG tandem repeat expansion in the DMPK gene's 3′ untranslated region, which is known to cause myotonic muscular dystrophy type 1, is one such mutation. Myotonic dystrophy and autism have a clear clinical connection, but the molecular basis for this connection is unknown. During brain development, the RNA splicing patterns of autism-risk genes, particularly a class of autism-relevant microexons, are altered when mutant DMPK RNAs with expanded CUG repeats sequester MBNL splicing factors. We show that both DMPK-CTG expansion and Mbnl null mouse models replicate autism-relevant mis-splicing profiles, as well as altered responses to novelty and social behavioral deficits. Our hypothesis that developmental mis-splicing of autism-risk genes causes myotonic dystrophy-associated autism is supported by these findings.
By Mahafuj Alam2 years ago in Humans
The Human Brain Is Rewiring Itself Faster Than Ever
In recent years, scientists have begun to uncover something astonishing: the human brain is changing—fast. Thanks to rapid developments in technology, information overload, and the demands of modern life, researchers are discovering that our brains are not just adapting, but actually rewiring themselves in ways we’ve never seen before.
By Saad Ullah Khan2 years ago in Humans
The Role of Technology in Cultural Evolution . Content Warning.
Thoughout history, technology has dramatically shaped human culture in various ways. From the earliest tools we relied on to the advanced systems we have today, technology has profoundly influenced how we communicate, express ourselves, and connect with each other. Let’s take a closer look at how technology has affected different aspects of human culture.
By Shariful Haque 2 years ago in Humans
The Cases of Breakthrough Measles Infections, Why Do They Happen?
However, these breakthrough measles infections—measles infection in a vaccinated person—are rare but nevertheless laudable occurrences. The MMR vaccine is well-proven, but no vaccine gives 100% protection. With outbreaks of measles still emerging in countries around the world, particularly in those communities where vaccination rates are subsiding, it has been important to establish what the factor is for these breakthrough cases to occur, in order to facilitate public health awareness and landscape response [1].
By Asif Faysal2 years ago in Humans
The Curious Case of Hiccups: A Journey Through the Unseen
The Curious Case of Hiccups: What’s Really Going On Inside Us? Sarah nestled up with her favorite dish, spicy butter chicken, and a cool Coke on a warm evening. A startled "hic!" escaped her lips as she went for her second taste. She stopped, gave a clumsy smile, and bided her time. However, the interruptions continued to occur, each just as she was ready to speak or bite into something traditional. However, what is the true origin of these little, uncontrollable outbursts? And why do they seem to be such an odd physical anomaly?
By Writing Palette2 years ago in Humans
"Why Allah does not bear the burden of human sins."
A new teacher has joined the class. Name – Mifzur Rahman. Slim build. As if a light breeze could knock him over. His eyes are unusually large—larger than his already prominent face. Looks as if someone has carefully placed two oversized olives on his face. Mifzur is a kind person. He has only one problem—though he teaches Process, he seems more interested in philosophical discussions. Topics like where religion originated, when humans became religious, what religion really is—and what it is not—are his areas of focus. Today is his fourth class. The topic is "Analytical Techniques & Bioinformatics." This is usually taught in the fourth semester. When he entered, he said, “Good morning, guys...” Everyone responded together, “Good morning, sir...” Then he asked, “How’s everyone doing?” One nice thing about Sir is that he always asks how everyone is doing when he enters the class—something most senior-level teachers don’t usually do. They enter like robots, give the lecture, and leave. But Mifzur Rahman is clearly different. We all answered in unison. But there was a bit of chaos at one point. Some students responded like this: “Alhammmmdulillah, good.” Sir’s forehead creased a little, and he asked, “Who said ‘Alhamdulillah, good’?” Silence. Everyone was stunned. I mentioned earlier—Sir is a bit different. He enters with energy, greets everyone cheerfully, asks how we’re doing. But now, is he going to scold us like a primary school teacher for saying "Alhamdulillah"? Sajed was reminded of his primary school teacher, Babul Chacha. That man would scold and sometimes even slap students for laughing more than twice in class. According to him, “Two laughs is the maximum. More than two means you’re misbehaving.” Anyway, Babul Chacha’s reign is over. Now it’s time to face Mifzur Sir. Seven students stood up. They were the ones who said “Alhamdulillah, good.” They were—Rakib, Adnan, Junayed, Sakib, Marium, Rita, and Sajed. Sir looked at all their faces carefully. Then he smiled and said, “Alright.” Everyone sat down. Looks like there won’t be much academic study today. It’ll be a discussion on philosophy. That’s exactly what happened. Mifzur Sir asked Adnan to stand up. He asked, “You said it too, right?” – “Yes, sir,” Adnan replied. Sir asked, “Do you know the meaning of ‘Alhamdulillah’?” Adnan seemed a little nervous. He swallowed hard and said, “Yes sir, it means ‘All praise belongs to Allah.’” Sir repeated the phrase, “All praise belongs to Allah.” Then he looked at Adnan and said, “Alright.” Adnan sat down. Then Sir asked Rita to stand. He asked her, “Are there thefts and robberies in the world?” Rita replied, “Yes, there are.” “Murder, violence, robbery, rape?” — “Yes, they exist.” “Breaking promises, deceiving people, greed and selfishness—those too?” — “Yes, those too.” “Are these praiseworthy actions?” — “No.” “Then, if all pr ataise goes to Allah when someone does something good, why doesn’t He receive any of the blame when people commit theft, murder, or rape? Why is He only credited with the good, but never held responsible for the evil? Isn’t that kind of biased?” Rita lowered her head and stayed silent. Sir said, “Here lies the contradiction of religion. God gets all the credit for good deeds, but conveniently distances Himself from the bad ones. In reality, no one truly belongs to God. If He did, He wouldn't be so biased. He takes credit for the good, but when it comes to the bad, He says, ‘Oh no, that’s on you.’” Some of the known atheists in the class started clapping. The atheist sitting next to Sajed even said, “Mifzur Sir is our Bangladeshi Dawkins!” Sir continued on about the absurdity of religion and the illusion of God. At this point, Sajed stood up. He said, “Sir, the Creator is not biased. He doesn’t take credit for people’s good deeds unjustly. He takes only what He deserves. God exists.” Sir looked at Sajed with a slight smile. “Are you sure?” — “Yes.” “Then who’s responsible for the evil deeds of humans?” — “Humans themselves,” replied Sajed. “And the good deeds?” — “Also humans.” Sir shouted, “Exactly! That’s the point I’m making. Good or bad—it’s all on humans. So all the credit goes to them. God has no role here. Therefore, He doesn’t deserve praise or blame. In short, God doesn't exist.” The class fell into pin-drop silence. Sajed said, “God absolutely deserves praise for people’s good deeds—because He gave us two hands to do good, two eyes to recognize good, a brain to think, and two legs to act. All of these are His gifts. That’s why He deserves praise.” Sir asked, “But people use those same hands and brains to commit evil too, right?” — “That’s not God’s fault.” Sir laughed loudly. “You’re a funny guy, I must say!” Sajed responded, “Sir, God gave humans free will. That’s what they use to choose their actions—whether good or bad.” In a mocking tone, Sir replied, “Forget about those religious texts, man. Come to the real world and be logical.” Sajed said, “Sir, may I explain with an example?” — “Of course,” replied Sir. Sajed began, “Imagine a ship sinks deep in the ocean—say it’s the Bermuda Triangle. No rescue team is able to save the people on board. Not even the Bermuda authorities themselves can help. Now imagine, in that very moment then you appeared there. You told everyone: "I can create such a suit that, once worn, any person can easily rescue people from a sinking ship—without facing any risk themselves." Sir said, "Oh really?" — "Imagine, you instantly created that suit. And a rescuer put it on and jumped into the sea to save the people drowning from the shipwreck."
By Toufikur Rahman 2 years ago in Humans
Gamma-ray bursts show that the universe's greatest structure is closer to Earth and larger than previously thought: "The meaning of this is still up for debate.
The Hercules-Corona Borealis Great Wall, the largest structure in the universe, was already difficult to explain with models of the universe because of its enormous size. Now, astronomers have found that the structure is even larger than they previously thought thanks to Gamma-Ray Bursts (GRBs), the universe's most potent energy explosions. Additionally, the scientists discovered that portions of the Great Wall of Hercules-Corona Borealis are actually closer to Earth than previously thought.
By Md. Sofayet Hossain2 years ago in Humans
"It’s Not Blue, Not Green, and Not from This World of Color"
: **An Unknown Color Has Been Discovered by Scientists** A group of scientists in the United States claim to have discovered a brand-new color that no one has ever seen before, which is an exciting and unexpected finding. This enigmatic color isn't on the traditional color wheel, and it's not just a new blue or green color. They have given it the name **"olo" because it is something completely different. **
By Mahir Faysal2 years ago in Humans
The Unexpected Side Effect of Your Morning Coffee That Could Be Quietly Shaping Your Life
For much of the world's population, the start of the day is inextricably associated with the reassuring ritual of making and drinking a cup of coffee. The full, reviving smell, the initial shock of vitality that shatters the residual haze of slumber, and the reassuring warmth seeping through the system have fixed coffee as an integral component of millions of morning routines. Beyond its thoroughly established capacity to boost alertness, hone concentration, and temporarily repel fatigue, though, is a more subtle and sustained impact, an "unexpected side effect" of our daily cup that works stealthily and powerfully within the complex biological terrain of our bodies.
By Sathwik Wik2 years ago in Humans
