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

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Topaz

Greetings everybody, 
It is Day 3 of campaign week, meaning only 2 more days of this series and we have a good one lined up for you tomorrow! But all in good time people. 
Today's post is on...

Save our sharks, save our seas.

All of us marvel at the elegance and beauty of the submerged underwater world, we often see it for its beauty through the colourful fish that inhabit it and marvel at how little we truly now of this aquatic kingdom. As we sit back and watch our television screens we look in awe at such images like the one below...

But did you know that you cannot have the above picture, without these?

Yes, sharks. But why we hear you say? Two simple words. Apex predator. Sharks were always guaranteed a seat at the head of the food chain, as very few things eat sharks other than... other sharks. It has been widely studied and there is evidence to support that apex predators such as the shark are crucial for the regulation of the food web structure and the ticking over of ecosystem processes. 

So lets take a look at the campaigns that will help our sharks!

Shark finning: 

Sadly, it does what it says on the tin, shark finning is the process of removing the sharks to pectoral fins and the dorsal fin whilst the shark is still alive, and then is  pushed back  of the boat and left to sink to the bottom of the ocean, left to either starve, drown or be eaten by other fish. 

Take a look at the video below, that goes into how important sharks are to the ecosystem they inhabit.

Caution: some  parts of this video shows a shark having its fin being cut off and maybe distressing for some people. 

Over 73 million sharks a year hare finned for the dish shark fin soup, many have described it to be a tasteless meat but is eaten anyway as it carries a stigma with it. Though it is not seen  a lot China is taking a stand against the shark fin soup. 

In a recent merger featuring some of the biggest names in conservation including the NGO shark savers, WildAid, National Geographic, Nat Geo Wild and WWF- Hong Kong, they launched the campaign...

With hollywood style broadcast messages, billboards, magazine ads and an online recruiting platform  created by Chinas most popular micro blogging platform, it was not surprising that they got the response they did. More than 100 celebrities joined in the first four weeks, 300,00 users pledged not to consume shark fin through an array of media from texting to photos and so on, it got to the point where they gained  2 million subscribers!! The support was amazing and maintained in Singapore and Kuala Lumpur. 

WWF released a leaflet below on the gravity of shark finning: 

What is a Biobunch post without some awesome info graphics and of course only the best for our readers: 

On Biobunch we strive to leave each post we d to end on a good note  and why not with this inspiring story!

This angel is called Maddie Cranston, she is 11 years old and she already hold the titles activist, conservationist and ocean warrior and to top that of she is also an international ambassador for AfriOceans Conservation Alliance. Her path was set in stone when she was 6 years old and watching a movie called 'Oceans', she sat there and watched as she saw the harm and pollution that was inflicted upon our oceans. From this, determination was born, and so was her inner ocean warrior. 

"I may be little, but here's what I know: it is never too early or late to make positive change happen. Even the smallest effort is important. All you need to do is try, every day. Our oceans and planet are worth saving now and for future generations."

- Maddie, Cranston

Check her page out and keep in touch with her, here

This concludes our post today, we hope that you are inspired to stop shark finning and to stop the needless killing of sharks, if not for the sharks, then for every other living organism in our oceans. Have a look at the links below that will tell you how you can help out!. 

It is people and children like Maddie, Cranston that bring home the message what an individual can do! always remember that

because....

“Unless someone like you cares a whole awful lot,
Nothing is going to get better. It's not.”
-Dr Seuss, The Lorax.

Thanks, Maddie and Lorax.

Biobunch, 

over and out. 

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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!

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Unknown