Hello, all you lovely Science lovers! 

Do you love the new blog as much as I do? New Year and a brand New Blog all for you, my faithful readers. As I have not said it officially yet HAPPY NEW YEAR! I will not keep you waiting let's head straight into it. 

1 in 5,000 newborns will have an enlarged liver and spleen. The cruel reality of the diagnosis becomes clear, this newborn has one of the 50 conditions known as Lysosomal Storage Disorders (LSDs). LSDs are relatively rare genetic disorders, carrying a life sentence filled with complications for the body's respiratory system, skeletal system and Central Nervous System. Rare as they are, certain forms of LSDs will lead to some Children not living to see their 5th Birthday. There is no cure. Initially, the only options of treatment were blood transfusions and very risky bone marrow transplants, researchers are now focusing on treatments that tackle the source of this disorder.  

Before we begin our journey we must first familiarise ourselves with the organelle at the heart of these disorders: the Lysosome. Lysosomes are small spherical structures found in the majority of animal cells, in spite of their size they play a significant role in cellular recycling and the overall maintenance of the cellular activity. They contain digestive enzymes that are able to ‘digest’ external biological substances (such as bacteria) and recycle components from formerly defective proteins as well as other compartments of the cell.  

Based on how essential lysosomes are in the upkeep of a functioning cell they have caught the attention from the medical field. For years clinicians have been activating autophagy (where molecules and other defective organelles are taken to the lysosome for digestion) with a chemical known as TFEB. This chemical leads to the production of more cellular lysosomes and stimulation of autophagy, such responses show potential in the treatment of Parkinson's disease, cancer,  obesity and even the removal of certain pathogens (bacteria and parasites).

What leads to the onset of LSD? It all starts with a substrate (a molecule that binds to an enzyme) as an example let’s focus on Gaucher's disease (most common LSD). The onset of this disease begins when a fatty substrate known as Glucocerebroside is manufactured in the cell, once this substrate has fulfilled its destiny within the cell it begins to make its way to its final destination - the lysosome to be degraded and recycled for future use.  

However, this all depends on whether the enzyme Glucocerebrosidase is present. In the absence of this enzyme, the substrate Glucocerebroside begins to accumulate and as we know too much of one thing is never too good. This accumulation of the substrate eventually reaches toxic levels, thereby triggering the onset of the characteristic symptoms of Gaucher's disease. If you're wondering why Glucocerebroside cannot be degraded by any of the countless other enzymes present in the lysosome, the answer would be the ‘intimate’ relationship between an enzyme and its substrate.

The image below summarises how enzymes actually work in the body, similar to a lock and a key, one enzyme fits one substrate (on most occasions anyway).

All 50 LSD’s share similar developments, the only thing changing would be the substrate and the enzyme involved.

There is no cure for LSD, however, there are now several possible treatment options. For this post we are going to focus on two that aim to reduce the levels of substrate accumulation:

ENZYME REPLACEMENT THERAPY:

Perhaps after reading how LSDs develop you may have reached an assumption that a possible treatment would be to replenish lysosomes with missing enzymes or replace defective enzymes with a functional version. If so… you have just described Enzyme-replacement therapy!

This treatment option have shown to be effective in reducing spleen and liver size, alleviating anaemia ( deficiency of red blood cells or haemoglobin) and thrombocytopenia (a deficiency in platelet numbers).However, this therapies success is limited due to its inability to distribute itself to several other body parts triggering Osteonecrosis, Osteopenia and Pulmonary Hypertension. Nonetheless, the greatest shortfall would be the inability to pass the blood-brain barrier providing little relief of neuropathological symptoms.

SUBSTRATE REDUCTION THERAPY:

This is where Substrate reduction therapy comes in. This treatment option does not attempt to replace enzymes, instead, it seeks to interrupt the synthesis of the substrate in the first place. This therapy is favourable to some as it is given orally and rarely triggers an immune response. Interestingly, this therapy works similarly to statins, these are prescribed to patients to lower their blood cholesterol by inhibiting the enzyme responsible for producing the cholesterol.  

Substrate reduction therapy uses a group of molecules known as imino sugars. Imino sugars work by inhibiting the enzyme responsible for synthesising the substrate. Additionally, the molecules used in this form of treatment may be small enough to penetrate the blood-brain barrier offering relief where Enzyme-replacement therapy could not. Side effects remain to be a slight problem with tremors and fevers being among them.

NEW HORIZONS FOR NEURODEGENERATIVE DISEASES:

I really enjoy the research stage for each of my posts mainly because I love learning about aspects of Biology I have not come across before. Out of everything that I read for this post I found the overlap between LSDs neurological symptoms and other neurodegenerative diseases fascinating. There is a form of LSD called Niemann - Pick type C that is also termed Childhood Alzheimer's based on the similarities in pathology and symptoms.  Both have triggers routed in the accumulation of cholesterol in the neurones of the brain.

Sadly, the life expectancy for patients with this form of LSD is 20 years old. What fascinates me is that LSDs are rare but there should be so much more research into these disorders. They offer a rare opportunity to look at neurodegenerative disorders differently and perhaps reach new forms of treatment.

That bring us to the end of this post! I hope you have enjoyed it and more importantly that you have gained a little bit of new information on these relatively rare genetic diseases. Have an amazing week guys the aim it to have a new post on this blog every Friday or Saturday. Stay safe from this freezing weather until next time.

Science in the City

xoxo

Read more »

Topaz

Greetings everybody, 

Hope you had an awesome, if not productive week or maybe you are a recent graduate or student and just soaked up some sun rays either or we have a treat for you today.

It has been a couple of weeks since the election but cast your minds back to how the parties had a shared view on the state of the nations mental health. Then we got to talking to some fellow colleagues and we realised that our knowledge on what mental health is and the forms in which it manifests  was very shallow as was our colleagues. We reached the conclusion that we needed a crash course in mental health  and then we decided that we should share what we found with you guys!
Firstly, what has the government promised on the mental health front? Simply put, five defining aims: 

1. Take mental health as seriously as physical health
2. Legislation to ensure that mental and physical health condition are given equal priority
3. Ensuring the presence of therapists in every part of the country to provide treatment. 
4. Increased funding for mental health care, along with easier access and improved waiting time standards for people experiencing mental ill-health
5. Ensure women have access to mental health support during and after the pregnancy. 

Thats all well and good but what is mental health, how do you begin to define a concept that you cannot see physically? Well we always say one of the best and sure fired ways of understanding something is being able to first define it. The World Health Organisation defines mental health as...

'The state of well-being in which every individual realises his or her own potential, can cope with the normal stresses of life, can work productively and fruitfully, and is able to make a contribution to her or his community.'- WHO

Pretty broad to be honest, and as such treating and identifying the symptoms of mental health is not easy. Many believe that mental health only refers to cases such as depression and OCD (obsessive-compulsive disorder), very understandable as these are the conditions that are often recycled by the media. With that we continue to the next stage of our crash course: the types of mental health. 

Note: we have categorised mental health disorders in accordance to a source and their are other ways to categorise mental health issues. 

Mental health issues:

1. Anxiety disorders: anxiety is something that all of us experience at some time usually sourced from our daily routine. However, when the mechanisms for anxiety regulation break down it could lead to over-expression of anxiety. This disorder often exits when an individual feels an inability to control  surrounding circumstances. 

Obsessive compulsive disorder (OCD): this is commonly seen in TV programmes. Anxiety in such cases leads to the individual repeating words or phrases and/or carrying out ritualistic behaviour repeatedly. For more information on this disorder along with potential treatments click here.  

Post-Traumatic Stress Disorder: This occurs after traumatic events such as war, rape, child abuse, natural disasters or post hostage situations. Symptoms range with this disorder however flashbacks, depression and numbing of the emotions are common signs of PTSD. This disorder was tackled in a previous Biology Behind on our blog for more details click here. In addition to this to learn on how to seek medical advice visit the NHS page here.

Generalised anxiety disorder: characterised by an exaggerated fear of daily routines and activities. Such individuals can suffer from fatigue, trembling and nausea. 

Image sources for anxiety: Child anxiety  Anxiety brain Power words for anxiety 60 seconds of a panic attack

2. Mood disorders: The majority of us understand the concept of moods and know that they fluctuate from day to day and are influenced by experiences. In the case of these disorders the fluctuations that individuals experience are way out of balance. 

Clinical depression: Depression is the big gun in the mental health world, as it is a common symptom in other mental health disorders. This disorder causes people to lose enjoyment from day to day life, if left unchecked or if it has managed to become serious enough it can lead to suicidal thoughts and death. Similar to cancer, and many other medical conditions depression shows no bias towards age, gender or pre-existing health conditions. Whats frustrating is that treatment for this condition is largely successful but people rarely seek medical treatment due to the stigma that depression carries with it. This idea that depression isn't serious, that it is a personal weakness or that you are just sad and lazy, is what makes depression a dangerous mental illness. For more information click here. 

Image sources for depression: Depressed brain Lonely man

Bipolar Disorder: Defined as an illness with one or multiple episodes of severe mania and depression. It often causes the person to experience extreme mood swings from over the top happiness to desperately low sadness and hopelessness. 

3. Schizophrenia disorders: These are serious brain disorders that causes significant disruptions in cognition and emotions. Thereby, affecting language, thought and the sense of ones 'self'. The symptoms of such disorders often include hearing internal voices. For more information click here.

Image Source

4. Dementias: Another well known condition, that is frequently seen on television and is characterised by memory loss and a reduction in intellectual and physical functioning. For more information on the Biology Behind dementia please click here, for information on how to support someone suffering from this click here 

Image sources for dementia: Dementias handprint Erasing the mind

5. Eating disorders: These are serious, and at times life threatening conditions that tend to be chronic. For more information about this disorder or on how to identify signs and support either a child or a friend please click here 

Image sources for eating disorders: Mirror image Bulimia Binge Eating:

Well, there you have it a crash course in mental health disorders, governmental policy and what mental health is defined as! 
Some of the mental health disorders  described above may have been familiar to you and some may be totally new to you. Now that you have had a crash course we encourage you to look into any that were of particular interest to you. 
Finally, these issues are not to be taken lightheartedly as you have seen many of these issues can become life threatening and some carry a the symptom of feeling alone in this big world. If you feel as though some of the symptoms described above apply to you or someone you know, don't be ashamed or scared and get seen. 
That was our Friday post and we will see you here next Friday!! have an awesome weekend. 

Biobunch, 
over and out

Read more »

Unknown

Greetings everyone,

Today marks a marvellous day because it is the second post of the new series 'Biology Behind' every other week we will take a theory, a disease, or a natural phenomenon and look at how biology drives it into being! so without further a dew we give to you today's post...

In the UK there are approximately 700,000 people out of a population of 61 million who are diagnosed with dementia, and it was found that more than 70 diseases/disorders are associated with this condition.

 

Post highlight: Did you know that Dementia is actually not a disease in itself such as Alzheimer's, it is in fact diseases that can eventually lead to dementia!

Like most conditions, dementia is pretty hard to define however we found one that seemed to be widely accepted. Dementia is thought to be a progressive deterioration in cognitive function, more than what is expected to be from normal aging and is due to damage or disease. 

The symptoms that are associated with dementia are split into two different categories

1. Cognitive symptoms: impairments in language, praxis, judgement, visuospatial function and related mental activities.
2.  Non-cognitive symptoms: disturbance in behaviour, mood, belief and experience (hallucinations).

Now that we have outlined the symptoms that come with dementia, it is important to note that although dementia is a development from other diseases there are 'types' of dementia.

So, we know that dementia is not a disease but caused by a disease, we know that when talking about the symptoms of dementia that we can break it down into two separate categories, no we move onto what factors or diseases can lead to dementia. 

Alzheimer's disease: unsurprisingly, this is the most common cause of dementia. The chemistry and structure of the brain in an Alzheimer's patient changes and their brain cells begin to die prematurely.

Stroke (vascular problems): this is as a cause with problems of the blood vessels. All blood vessels leading to the brain are extremely important as the brain needs a rich and continuous supply of oxygen and when interrupted brain cells begin to die causing vascular dementia.

Dementia with Lewy bodies: this is where tiny spherical clusters of protein build up within the nerve cell, thereby affecting chemical signalling between one nerve cell and the next. It affects the patients memory, concentration and ability to speak, it is also often mistaken for Parkinson's Disease.

Frontotemporal dementia: this dementia includes Picks disease (this is considered to be a progressive form of dementia involving localised atrophy of the brain.) In this form the front part of the brain is damaged which in the short term affects behaviour and personality and then later on the memory starts to become affected.

Other diseases that can lead to dementia are: progressive supra nuclear palsy; Korsakoffs syndrome; Binswangers disease; HIV and AID's and Creutzfeldt-Jakob disease; common Parkinson's disease; Huntington's disease; Motor Neurone disease and Multiple Sclerosis. People with high blood glucose levels have a higher risk of dementia even without diabetes.

This brings us to the end of our post! we hope that you enjoyed this post and make sure that you visit our blog again on Wednesday for the animal of the week wondering what it is well you are going to have to come back and see! And we will leave you with this fact it has been proven that being by lingual or having the ability to speak  another language other than your own could help in preventing dementia.Well in that case...

@Biobunch.
Cambio y fuera!

Read more »

Unknown