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Frederic Allain from ETH Zürich, reported a discovery providing a new insight into the molecular basis of the neurodegenerative disease Amyotrophic Lateral Sclerosis. The study uncovered a previously unknown mechanism in the gene involved in this devastating disease. This discovery may serve as a basis to develop new therapies.

Amyotrophic Lateral Sclerosis (ALS) is a fatal disease that causes progressive weakness of the muscles due to the degeneration of motor neurones in the brain and spinal cord. The average age at onset is 60 years and death usually occurs three years after the first symptoms appear, due to respiratory failure. Although there are some treatments available that can slow the progression by a few months, those affected are in desperate need of more effective therapeutics that improve symptoms and extend life expectancy.

In 5% of ALS cases, the root cause is genetic, and scientists have identified that mutations in the FUS gene can cause an early-onset form of the disease. The FUS protein plays a crucial role in the normal functioning of our cells, binding RNA molecules to fine-tune the process that manufactures proteins from our DNA. In individuals who have mutations in the FUS gene, proteins are seen to build up in the wrong location, proving toxic to cells such as the motor neurones. However, the specific details of this process have remained elusive and until fully understood, are a barrier to the development of treatments.

Dr Marc-David Ruepp and his team set about investigating the detailed biological steps behind this process in the hope that opportunities to therapeutically intervene and stop the disease may become apparent. Using cutting-edge methods, they looked for differences in how normal and mutant FUS bind to RNA molecules in the cell and discovered an abnormal interaction with a key RNA that causes the latter's mis-localisation and build up. These findings provide the first mechanistic and atomic resolution insights into how a toxic interaction of FUS with RNA could contribute to motor neurone degeneration, and offers hope for the generation of new treatments for individuals with the mutated form of the protein.

The discovery that mutant FUS undergoes toxic interactions with specific RNAs is exciting, especially because mutations in numerous RNA binding proteins are known to cause ALS. We hope that our insights will pave the way towards a better understanding of the disease and result in novel therapeutic approaches.- Dr Marc-David Ruepp, Group Leader at UK DRI at King's College London and a senior author of the paper

Study first author Dr Daniel Jutzi added,"In this collaborative work, we established how exactly the FUS protein binds to central RNA molecules in the cell. Besides improving our understanding of the biological function of FUS, this knowledge will allow us to create synthetic RNAs to target FUS for therapeutic intervention."

Another important finding in this study also revealed a shared mechanism between ALS and another neurodegenerative disease called spinal muscular atrophy (SMA). This indicates the significance of the biological mechanism and how it can be used as therapeutic target.

Aberrant interaction of FUS with the U1 snRNA provides a molecular mechanism of FUS induced Amyotrophic Lateral Sclerosis - Jutzi et al is published today in Nature Communications DOI: 10.1038/s41467-020-20191-3

Contact

For interviews or any further media information please contact:

Louise Pratt, Head of Communications, IoPPN: louise.a.pratt@kcl.ac.uk / +44 7850 919020

Amy Edmunds, UK DRI Director of Communications and Engagement: amy.edmunds@ukdri.ucl.ac.uk

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Breakthrough disease mechanism behind Amyotrophic Lateral Sclerosis...

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Frederic Allain from ETH Zürich, reported a discovery providing a new insight into the molecular basis of the neurodegenerative disease Amyotrophic Lateral Sclerosis. The study uncovered a previously unknown mechanism in the gene involved in this devastating disease. This discovery may serve as a basis to develop new therapies.

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Definition: a progressive nervous system disease that affects nerve cells in the brain and spinal cord, causing loss of muscle control

No cure, small treatments, and no clear cause

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Motor neurons reach from the brain to the spinal cord and from the spinal cord to the muscles throughout the body. The progressive degeneration of the motor neurons in ALS eventually leads to their demise.

When the motor neurons die, the ability of the brain to initiate and control muscle movement is lost. When voluntary muscle action is progressively affected, people may lose the ability to speak, eat, move and breathe.

The motor nerves affected when you have ALS are the motor neurons that provide voluntary movements and muscle control. Examples of voluntary movements are making the effort to reach for a smartphone or step off a curb. These actions are controlled by the muscles in the arms and legs.

French neurologist Jean-Martin Charcot discovered ALS in 1869. While ALS can affect anyone, anywhere, at any time, there are two different ways cases are categorized.

For about 90% of all cases, there's no known family history of the disease or presence of a genetic mutation linked to ALS.

For 5-10% of all cases, there's a known family history of the disease. This is often called familial ALS.

In families with familial ALS, there is a 50% chance each offspring will inherit the gene mutation and may develop the disease.

For unknown reasons, military veterans are more likely to be diagnosed with the disease than the general public.

A wealth of new scientific understanding about the physiology ALS has occurred in recent years. There are currently seven drugs approved by the U.S. Food and Drug Administration (FDA) to treat ALS and its symptoms: Qalsody, RELYVRIO, Radicava, Rilutek, Tiglutik, Exservan and Nuedexta.

Studies to develop more treatments and a cure for ALS, many funded by The ALS Association, are ongoing around the world. Scientists have made significant progress in understanding how the disease works, identifying biological indicators that can help diagnose and treat the disease, and learning ways to prevent cases of ALS. Learn more about ALS research.

In addition, people living with ALS may experience a better quality of life by participating in support groups and attending one of The ALS Association's Certified Treatment Centers of Excellence or a Recognized Treatment Center. Such Centers provide a national standard of best-practice multidisciplinary care to help manage the symptoms of the disease and help people living with ALS live on their own terms for as long as possible.

According to the American Academy of Neurology's Practice Parameter Update, studies have shown that participation in a multidisciplinary ALS clinic may prolong survival and improve quality of life.

Click here to find a Center near you.

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ALS, or amyotrophic lateral sclerosis, is a progressive neurodegenerative disease that affects nerve cells in the brain and spinal cord. There is no cure for ALS yet.

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Definition: the science of mind and behavior
Examples: forensic, social, cognitive, and developmental

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Psychology is the study of the mind and behavior, according to the American Psychological Association. It is the study of the mind, how it works, and how it affects behavior.

The APA adds that it "embraces all aspects of the human experience, from the functions of the brain to the actions of nations, from child development to care for the aged."

Psychologists and psychiatrists work together to help people with mental health conditions, but they are not quite the same.

A psychologist treats a patient through psychotherapy, helping to relieve symptoms through behavioral change. The role of the psychiatrist, who is a medical doctor, focuses more on prescribing medication and other interventions to manage mental health conditions.

The work of a psychologist can range from counseling individuals with anxiety to advising companies on how to build better teams.
The mind is highly complex, and conditions that relate to it can be hard to treat.

Thought processes, emotions, memories, dreams, perceptions, and so on cannot be seen physically, like a skin rash or heart defect.

While physical signs of some mental health issues can be observed, such as the plaques that develop with Alzheimer's disease, many theories of psychology are based on observation of human behavior.

A practicing psychologist will meet with patients, carry out assessments to find out what their concerns are and what is causing any difficulties, and recommend or provide treatment, for example, through counselling and psychotherapy.

Psychologists may have other roles, too. They may carry out studies to advise health authorities and other bodies on social and other strategies, assess children who find it difficult to learn in school, give workshops on how to prevent bullying, work with recruitment teams in companies, and much more.

There are different types of psychology that serve different purposes. There is no fixed way of classifying them, but here are some common types.

Clinical psychology

Clinical psychology integrates science, theory, and practice in order to understand, predict and relieve problems with adjustment, disability, and discomfort. It promotes adaption, adjustment, and personal development.

A clinical psychologist concentrates on the intellectual, emotional, biological, psychological, social, and behavioral aspects of human performance throughout a person's life, across varying cultures and socioeconomic levels.

Clinical psychology can help us to understand, prevent, and alleviate psychologically-caused distress or dysfunction, and promote an individual's well-being and personal development.

Psychological assessment and psychotherapy are central to the practice of clinical psychology, but clinical psychologists are often also involved in research, training, forensic testimony, and other areas.

Cognitive psychology

Cognitive psychology investigates internal mental processes, such as problem solving, memory, learning, and language. It looks at how people think, perceive, communicate, remember, and learn. It is closely related to neuroscience, philosophy, and linguistics.

Cognitive psychologists look at how people acquire, process, and store information.

Practical applications include how to improve memory, increase the accuracy of decision-making, or how to set up educational programs to boost learning.

Developmental psychology

This is the scientific study of systematic psychological changes that a person experiences over the life span, often referred to as human development.

It focuses not only on infants and young children but also teenagers, adults, and older people.

Factors include motor skills, problem solving, moral understanding, acquiring language, emotions, personality, self-concept, and identity formation.

It also looks at innate mental structures against learning through experience, or how a person's characteristics interact with environmental factors and how this impacts development.

Developmental psychology overlaps with fields such as linguistics.

Evolutionary psychology

Evolutionary psychology looks at how human behavior, for example language, has been affected by psychological adjustments during evolution.

An evolutionary psychologist believes that many human psychological traits are adaptive in that they have enabled us to survive over thousands of years.

Forensic psychology

Forensic psychology involves applying psychology to criminal investigation and the law.

A forensic psychologist practices psychology as a science within the criminal justice system and civil courts.

It involves assessing the psychological factors that might influence a case or behavior and presenting the findings in court.

Health psychology

Health psychology is also called behavioral medicine or medical psychology.

It observes how behavior, biology, and social context influence illness and health.

A physician often looks first at the biological causes of a disease, but a health psychologist will focus on the whole person and what influences their health status. This may include their socioeconomic status, education, and background, and behaviors that may have an impact on the disease, such as compliance with instructions and medication.

Health psychologists usually work alongside other medical professionals in clinical settings.

Neuropsychology

Neuropsychology looks at the structure and function of the brain in relation to behaviors and psychological processes. A neuropsychology may be involved if a condition involves lesions in the brain, and assessments that involve recording electrical activity in the brain.

A neuropsychological evaluation is used to determine whether a person is likely to experience behavioral problems following suspected or diagnosed brain injury, such as a stroke.

The results can enable a doctor to provide treatment that may help the individual achieve possible improvements in cognitive damage that has occurred.

Occupational psychology

Occupational or organizational psychologists are involved in assessing and making recommendations about the performance of people at work and in training.

They help companies to find more effective ways to function, and to understand how people and groups behave at work.

This information can help improve effectiveness, efficiency, job satisfaction, and employee retention.

Social psychology

Social psychology uses scientific methods to understand how social influences impact human behavior. It seeks to explain how feelings, behavior, and thoughts are influenced by the actual, imagined or implied presence of other people.

A social psychologist looks at group behavior, social perception, non-verbal behavior, conformity, aggression, prejudice, and leadership. Social perception and social interaction are seen as key to understanding social behavior.

Other branches include military, consumer, educational, cross-cultural, and environmental psychology. The number of branches continues to grow.

In a philosophical context, psychology was around thousands of years ago in ancient Greece, Egypt, India, Persia, and China.

In 387 BCE, Plato suggested that the brain is where mental processes take place, and in 335 BCE Aristotle suggested that it was the heart.

Avicenna, the famous Muslim doctor, born in 980 AD, studied and treated epilepsy, nightmares, and poor memory. The first hospitals treating psychiatric conditions were said to have been set up by Islamic doctors in medieval times.

In 1774, Franz Mesmer proposed that hypnosis, or "mesmerism," might help cure some types of mental illness.

In 1793, Philippe Pinel released the first patients with mental health problems from confinement in a move that signalled a move toward more humane treatment.

In 1879, Wilhelm Wundt, Germany, founded psychology as an independent experimental field of study. He set up the first laboratory that carried out psychological research exclusively at Leipzig University. Wundt is known today as the father of psychology.

In 1890, an American philosopher, William James, published a book entitled Principles of Psychology. It was discussed by psychologists worldwide for many decades. In the same year, New York State passed the State Care Act, in which people with mental health problems were to leave poor houses and enter the hospital for treatment.

In 1890, the American Psychological Association (APA) was founded, under the leadership of G. Stanley Hall.

Hermann Abbingaus, who lived from 1850 1909, and worked at the University of Berlin, was the first psychologist to study memory extensively.

Ivan Pavlov, who lived from 1849 to 1936, carried out the famous experiment which showed that dogs salivated when they expected food, introducing the concept of "conditioning."

The Austrian Sigmund Freud, who lived from 1856 to 1939, introduced the field of psychoanalysis, a type of psychotherapy. He used interpretive methods, introspection, and clinical observations to gain understanding of the mind.

He focused on resolving unconscious conflict, mental distress, and psychopathology. Freud argued that the unconscious was responsible for most of people's thoughts and behavior, and for mental health problems.

E. B Titchener, an American, strongly believed in structuralism, which focuses on the question: "What is consciousness?"

William James and John Dewey were strong believers in functionalism, which addressed the "What is consciousness for?"

The debate between the functionalists and structuralists led to a rapid growth in interest in psychology in the United States and elsewhere, and the establishment of the first psychology laboratory in the U.S., at Johns Hopkins University.

Behaviorism

In 1913 an American psychologist, John B. Watson, founded a new movement that changed the focus of psychology.

Behavior, he argued, is not the result of internal mental processes, but the result of how we respond to the environment.

Behaviorism focused on how people learn new behavior from the environment.

Humanism

Humanists viewed behaviorism and psychoanalytic theory as too dehumanizing.

Rather than being victims of the environment or the unconscious, they proposed that humans are innately good and that our own mental processes played an active role in our behavior.

The humanist movement puts high value on the emotions, free will, and a subjective view of experience.

Cognitive theory

Introduced in the 1970s, this is seen as the most recent school of thought in psychology.

Cognitive theorists believe that we take in information from our environment through our senses and then process the data mentally by organizing it, manipulating it, remembering it, and relating it to information we have already stored.

Cognitive theory is applied to language, memory, learning, perceptual systems, mental disorders, and dreams.

Today
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Nowadays, psychologists study all these approaches and choose what appears to be best from each approach for a particular situation.

According to the American Psychological Association (APA), in the U.S., a pschologist can become licensed to practice with a doctoral degree in the field of psychology from an accredited university. In addition, each state has requirements for licensure.

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Psychology: Definitions, branches, history, and how to become one

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Psychology is the study of the mind, how it works, and how it might affect behavior. Understand the differences between a psychologist and a psychiatrist, and learn how they often work together to treat a person. Learn how psychology compares to other sciences and find out about the various branches of psychology.

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Definition: a long-term health condition that may not have a cure
Examples: Cancer, Diabetes, ALS, Asthma, And Dementia

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You may find it hard to tell others that you have a chronic illness. You may worry that they will not want to know about it or that they will judge you. You may feel embarrassed about your illness. These are normal feelings. Thinking about telling people can be harder than actually telling them.

People will react in different ways. They may be:

Surprised.

Nervous. Some people might not know what to say, or they might worry they will say the wrong thing. Let them know that there is no right way to react and no perfect thing to say.

Helpful. They know someone else with the same illness so they are familiar with what is going on with you.

You may look and feel fine most of the time. But at some point, you may feel ill or have less energy. You may not be able to work as hard, or you may need to take breaks for self-care. When this happens, you want people to know about your illness so they understand what is going on.

Tell people about your illness to keep you safe. If you have a medical emergency, you want people to step in and help. For example:

If you have epilepsy, your coworkers should know what to do if you have a seizure.

If you have diabetes, they should know what the symptoms of low blood sugar are and what to do if you have them.

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Living with a chronic illness - reaching out to others: MedlinePlus Medical Encyclopedia

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A chronic illness is a long-term health condition that may not have a cure. Examples of chronic illnesses are:

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Most patients that are diagnosis with ALS experience anxiety and or depression

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Morrie suffered with ALS throughout the book, slowly getting weaker and less able to everyday tasks. The average life span after being diagnosed with ALS is about 2-5 years.

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Scientist aren’t sure if the depression and anxiety is related to the progression of the disease or if it’s an emotional impact on patients.

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“Do I wither up and disappear, or do I make them best of my time left? He had asked himself” (Albom 10).

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“ALS is like a lit candle: it melts your nerves and leaves your body a pile of wax” (Albom 9).

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“Finally, on a hot, humid day in August 1994, Morrie and his wife, Charlotte, went to the neurologist’s office, and he asked them to sit before he broke the news: Morrie had amyotrophic lateral sclerosis (ALS), Lou Gehrig’s disease, a brutal, unforgiving illness of the numerological system” (Albom 7).

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“I begin a year-long project on how football in America has become ritualistic, almost a religion, an opiate for the masses” (Albom 67).

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“‘If you hold back on the emotions - if you don’t allow yourself to go all the way through them - you can never get to being detached, you’re too busy being afraid”’ (Albom 104).

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The disease does not affect a person's ability to see, smell, taste, hear, or recognize touch. The disease does not usually impair a person's mind or personality

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The science of psychology has had many successes. Such as learning about animals and how to improve their needs and learning about the behaviors of humans to emphasize the importance of ego.

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A number of psychologists have gained some notoriety over the years, with a few considered outright famous. Here's a list of significant psychologists and their major contributions to the field.

Ivan Pavlov (1849-1936)

Ivan Pavlov was educated in natural sciences in St Petersburg, Russia. He was mostly interested in physiology, and while researching the digestive system in dogs he made his most famous discovery - that dogs salivate before the delivery of food.

Pavlov rang a bell when feeding the dogs and they soon learned to associate the sound with food. After some time the dogs salivated in response to the bell alone. Named Pavlovian or classical conditioning, this discovery has a number of real-life applications including in the treatment of phobias and for aversion therapy.

Sigmund Freud (1856-1939)

Considered a founding father of psychoanalysis, Sigmund Freud first qualified as a doctor of medicine at the University of Vienna. He went on to work in cerebral anatomy and his fascination with the brain developed from there.

Freud died in 1939 but his legacy lives on, with many of his theories forming the basis for modern clinical psychology.

Carl Jung (1875-1961)

Like many on our list, Carl Jung studied medicine, at the University of Basel. His interest in spiritual phenomena led him to combine his two passions and become involved in the field of psychiatry.

Jung befriended Sigmund Freud and, for a time, was viewed almost as his protégé. However, he started to develop his own ideas and the two men grew apart. Jung's synthesis of the concepts of introversion and extraversion formed a major foundation of personality psychology and also influenced psychotherapy.

Melanie Klein (1882-1960)

Austrian psychoanalyst Melanie Klein reached academic fame in the early 20th century for her work on psychoanalytic child psychology. Klein's ideas included a strong belief in the therapeutic effects of child play - she proposed that play gave children the chance to express their experiences and feelings.

Kleinian psychoanalysis is one of the major schools in psychology, and an area you'll likely cover if studying the subject at university.

Karen Horney (1883-1952)

Best known for her work on neurosis and feminine psychology, Karen Horney was educated at the University of Freiburg, University of Göttingen and the University of Berlin.

Horney's theory of neurosis stipulated that there are ten types of neuroses, which are used to cope with anxieties caused by interpersonal relations - a theory that remains prominent today. Horney also famously opposed Sigmund Freud's views on female psychology and used the scientific method to prove that societies encourage women to be dependent on, and overvalue, men.

Anna Freud (1895-1982)

Daughter of the illustrious Sigmund Freud, Anna Freud also found her own voice in the world of psychological discovery. She and Melanie Klein are considered the founders of psychoanalytic child psychology. Freud's work specifically emphasised the importance of the ego in serving and opposing subconscious behaviour.

Mary Whiton Calkins (1863-1930)

Best known for her groundbreaking work in self-psychology, Mary Whiton Calkins studied at Harvard - although because she was a woman, she never received a doctoral degree in psychology despite doing everything that's needed to do to get one.

Calkin believed that the conscious self was intrinsic to psychology, and she invented the paired-associate technique that studied memory. She wrote more than 100 professional papers throughout her career and became the first female president of the American Psychological Association in 1905.

Solomon Asch (1907-1996)

Solomon Asch became interested in psychology towards the end of his undergraduate studies, so much so that he pursued his graduate degree in the subject area at Columbia University. Asch soon became involved with Gestalt psychology and social psychology, becoming famous for his conformity experiments where he proposed that group pressure can cause humans to entirely change opinion in spite of obvious facts.

Stanley Milgram (1935-1984)

Stanley Milgram began his university career with an undergraduate degree in political science, moving on to pursue his passion in social psychology by studying for a PhD at Harvard. He became renowned for his work on the 'Behavioural Study of Obedience'.

In this study, Milgram measured the willingness of subjects to obey an authority figure, despite ordering the participants to perform acts conflicting with their conscience. He found that 26 of the 40 subjects seemingly delivered electric shocks of up to 450 volts to another person when ordered to do so. The shocks were fake but the experiment has been used to suggest why people are willing to commit the most appalling atrocities in times of war.

Phillip Zimbardo (1933-)

Phillip Zimbardo completed an MA and PhD in psychology at Yale University in the 1960s. He accepted the position of Professor of Psychology at Stanford University in 1971 and soon after conducted the famous Stanford prison study.

Zimbardo used subjects to examine the psychology of prison life, with half the participants being assigned the role of the guard and the others the role of a prisoner. The two-week experiment ended after only six days as the guards became sadistic and the prisoners showed extreme passivity and depression. Zimbardo concluded that certain situations have a higher influence over our psyche then we expect.

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A number of psychologists have gained some notoriety over the years, with a few considered outright famous. Here's a list of significant psychologists and their major contributions to the field. Ivan Pavlov was educated in natural sciences in St Petersburg, Russia.

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Chronic Illnesses are among the most costly health conditions in the United States. These disease are one of the hardest to deal with before and after deaths because of the many costs that add up

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ALS affects slightly more men than women. Military veterans are 1 1/2 to two times more likely to develop ALS than people who haven't served in the military.