GCase: Mutants matter?

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Tiny genetic variations in a region of DNA called the GBA gene are associated with an increased risk of developing Parkinson’s. The information in the GBA gene provides the instructions for making an enzyme (called GCase) which is involved with waste disposal inside of cells.

Individuals with Parkinson’s who carry a variation in their GBA gene typically have low levels of GCase activity, so researchers have been attempting to identify therapeutic molecules that will enhance the level and activity of GCase as an approach towards slowing the progression of Parkinson’s.

Recently, however, new research has provide novel insights into how the biology of GCase pathway may be affected in individuals with Parkinson’s who carry a GBA genetic variation. 

In today’s post, we will explain what the GBA gene and GCase enzyme are, review the new research, and consider the potential implications of these findings.

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Prof Sulzer. Source: Youtube

Professor David Sulzer is one individual in the scientific research community who truly fascinates me.

In addition to being at the absolute top of his game academically (he is a professor of Psychiatry, Neurology, Pharmacology at Columbia University and maintains a very large research group investigating neurodegenerative conditions), he is also a composer and musician with a discography that any professional artists would be extremely proud of (his recording alias is Dave Soldier).

He’s also written books (for example Music Math and Mind“).

Source: Twitter

Where he finds the time to do all of these thing I do not know, but I really like the combination of art and science.

Oh, and did I forget to mention the Thai Elephant Orchestra?

I’m sorry: The what?!?

Just watch:

They have released three CDs and the band grew up to 14 elephants.

Fascinating, but what does this have to do with Parkinson’s?

Continue reading “GCase: Mutants matter?”

Monthly Research Review: January 2022

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At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during January 2022.

The post is divided into 10 parts based on the type of research:

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So, what happened during January 2022?

In world news:

January 7th – COVID-19 pandemic: The number of COVID-19 cases exceeds 300 million worldwide.

January 10th – The first successful heart transplant from a pig to a human patient is reported.

January 11th to 13th – A rare rotating ice disk formation (300+ feet wide) developed on the Presumpscot River in Maine (USA) and someone thought it deserved to be on the news (and its own Twitter account).

January 15th – A large eruption of ‘Hunga Tonga’ – a submarine volcano in Tonga – triggered tsunami warnings in Australia, Canada, Chile, Fiji, Japan, New Zealand, Samoa, and the United States.

January 26th – An electronically tagged Arctic hare’s dash across northern Canada had researchers scratching their heads. The animal covered a total of 388 kilometers in 49 days – which is the longest such journey among hares and is changing how scientists think about tundra ecology.

 

In the world of Parkinson’s research, a great deal of new research and news was reported:

In January 2022, there were 1,073 research articles added to the Pubmed website with the tag word “Parkinson’s” attached (compared to 11,668 for all of 2021). In addition, there was a wave to news reports regarding various other bits of Parkinson’s research activity (clinical trials, etc).

The top 6 pieces of Parkinson’s news

Continue reading “Monthly Research Review: January 2022”

The luminance of a lighthouse

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LRRK2 inhibition represents one of several biological approaches to slowing the progression of Parkinson’s that is currently being clinically tested.

Leading the charge in the development of LRRK2 inhibitors is a biotech company called Denali Therapeutics (in partnership with Biogen).

Recently, the company provided news on the immediate future clinical development plans for their lead molecule BIIB122.

In today’s post, we will look at what is going to happen next for LRRK2 inhibition.

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Source: Denali

Founded in 2013 by a group of former Genentech executives, San Francisco-based Denali Therapeutics is a biotech company which is focused on developing novel therapies for people suffering from neurodegenerative diseases.

In particular, they have been leading the charge on a new class of drugs for Parkinson’s called LRRK2 inhibitors.

What are LRRK2 inhibitors?

Continue reading “The luminance of a lighthouse”

Year in review: 2021

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As with the preceding year, 2021 proved to be challenging due to the continuing COVID-19 pandemic (and it is not over yet). Vaccines were rolled out with remarkable speed, but equally new variants of the virus popped up and have kept Governments and health regulatory bodies on their toes.

An amazing feature of the last two years has been the response to the pandemic from the research community – not only in sequencing novel variants and testing new vaccines – but also in terms of keeping research projects ongoing in other fields of science. Despite everything pandemic-related, there has been significant progress in areas like Parkinson’s research.

In today’s post, we will consider three big Parkinson’s-related research takeaways of 2021 (based on our humble opinions here at the SoPD), and then we will provide an extended overview of some of the important discoveries and pieces of news from the last 12 months (Be warned: this will be a long post).

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Source: Thecalculatorsite

There are 52.143 weeks in a year, which equates to:

  • 365 sun rises and sunsets
  • Approximately 13.3 lunar orbits (Source)
  • 8 760 hours
  • US$93.86 trillion in global gross domestic production (nominal terms; 194 economies in 2021 – Source)
  • 525 600 minutes
  • 29.2 tons of adenosine triphosphate (ATP) production and recycling (per person – based on an average 80kg individual)
  • 31 622 400 seconds (Source)
  • Approximately 35 million heart beats and  8.4 million breaths

Basically, ample time and resources to do some useful stuff (beyond simply binging “Squid games” on Netflix or playing “candy crunch”).

The face of 2021? Source: Tasteofcinema

The last 52.143 weeks have been particularly challenging in many countries due to the ongoing COVID-19 situation. Despite these ongoing challenges, significant progress has been made in the research surrounding Parkinson’s and other neurodegenerative conditions in 2021.

Below we will discuss three of the main research-related pieces of news for Parkinson’s (as determined by the team here at SoPD HQ), before providing a month-by-month overview of the note worthy events.

The main events in Parkinson’s-related research for 2021

(in no particular order)

Continue reading “Year in review: 2021”

Administrative: No more Meta

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Administrative news: The Science of Parkinson’s page on Meta has been removed.

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Source: Gadgethacks

Hi folks,

This is just a quick post to say that the SoPD page on Meta (formerly Facebook) has been removed.

This is not a ‘holier-than-thou’ protest, but rather a philosophical difference of opinions: We simply do not want to be associated with them.

Facebook went in the wrong direction some time ago. If the company now wishes to think that people will trust them with their financial details (their libra project) in the wake of the Cambridge Analytica disaster or that a name change will solve everything (remember Blackwater, it became Xe Services in 2009, then Academi in 2011,…), then good for them.

I really fear that they are not even trying to solve the issues that plague their business as they now seek to offer the fully immersive experience of “the metaverse”. In all likelihood, the move will only supercharge the problems.

I wish them well, but SoPD will not be associated.

 

All of the material on this website is licensed under a
Creative Commons Attribution 4.0 International License
You can do whatever you like with it!


The banner for today’s post was sourced from Economictimes

Mo better for TEVA with Modag?

 

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This week the pharmaceutical company TEVA Pharmaceuticals Industries Ltd has announced a deal with a small German biotech firm called MODAG.

The two companies are forming a strategic collaboration on the exclusive worldwide licensing and development of MODAG’s lead compound anle138b.

Anle138b is a small molecule inhibitor of the believed to be toxic forms of the Parkinson’s-associated protein alpha synuclein.

In today’s post, we will discuss what is known about anle138b and the implications of this new partnership.

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Source: SLE

In 1901, Haim Salomon and his brother-in-law Moshe Levin established a small wholesale drug business, near the Nablus Gate in Jerusalem. They called it “Salomon and Levin”. A few years later, Yitzhak Elstein, another of Haim Salomon’s brothers-in-law, joined the firm and they changed the name of the company to SLE – Salomon Levin and Elstein.

Source: SLE

From these humble beginning, grew a pharmaceutical juggernaut that we know today as TEVA Pharmaceuticals.

TEVA – meaning “Nature” in Hebrew – is now an international producer of pharmaceutical agents, with 40,000 employees working across 65 manufacturing facilities in more than 30 countries. The company has a portfolio of more than 3,500 medicines, and they produce approximately 85 billion tablets and capsules per year (Source).

Does TEVA produce any drugs for Parkinson’s?

Yes, Azilect (rasagiline) – an approved monoamine-oxidase B inhibitor for the treatment of Parkinson’s – was developed by Teva Pharmaceuticals.

In addition, they are actively developing novel therapies. And this week they signed a really interesting deal to collaborate with a small German biotech company called MODAG.

What does MODAG do?

Continue reading “Mo better for TEVA with Modag?”

Repurposing bumetanide for Alzheimer’s

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Bumetanide (Bumex) is a diuretic drug (a medication that removes water, by increasing the production of urine). It is used to treat swelling caused by heart failure or liver or kidney disease. It is a widely used drug that has been well characterised in clinical use.

Recently researchers conducted a screening study to identify clinically available agents that might be useful in the treatment of the cognitive decline associated with a genetic risk factor for Alzheimer’s: APOE4 

The top drug identified in their study was bumetanide.

In today’s post we will discuss what APOE4 is, we will review the results of the new study, and we will look at why these findings could be interesting for Parkinson’s.

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Source: Pharmacysafety

Many years ago, I was at a patient-research interaction event and a world-leading genetics researcher was asked by someone in the audience if they had had their DNA sequenced.

They said ‘no‘.

The person asking the question frowned and asked ‘why not? You have all the technology and knowledge – don’t you want to know more about yourself?

The researcher replied “No. Having your DNA sequenced should not be taken lightly. You might learn stuff about yourself that you don’t want to know

They used the example of possibly being an APOE4 carrier (who have a higher risk of cognitive decline during aging). The geneticist declared that they would rather not know that kind of information for fear of the impact that it could have on their life.

The questioner respected the honest answer and the conversation that followed was really interesting. More recently, however, as we have learned more about APOE4 and new drugs are being targeted at this risk factor, I have often wondered if their decision would still stand. Are we approaching an age when we might want to know if we are APOE4 carriers?

Hang on a moment. What is this APOE4 thing?

Continue reading “Repurposing bumetanide for Alzheimer’s”

Monthly Research Review – September 2021

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At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during September 2021.

The post is divided into 10 parts based on the type of research:

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So, what happened during September 2021?

In world news:

7th September – El Salvador becomes the first country in the world to accept Bitcoin as an official currency.

16th September – Inspiration4 launched by SpaceX becomes the first all-civilian spaceflight, carrying a four-person crew on a three-day orbit of the Earth.

21st September – A 10-foot wide house in Boston (known as “Skinny House”) sold for US$1.25 Million:

23rd September – Scientists report the discovery of human footprints in the state of New Mexico that are understood to be 23,000 years old, around the time of the last Ice Age – putting humans in North American significantly earlier than previously believed.

27th September – UK traffic was at its lowest for a Monday since England’s pandemic restrictions were lifted in mid-July, according to the data from the Office for National Statistics. Why? Because we do not have enough truck drivers to deliver the petrol. Nothing to do with BREXIT, the Government insisted, but the English were too busy making fun of themselves as they dealt with the crisis:

I particularly liked the way the BBC sent their journalist “Phil McCann” to report on the situation. I also rather liked:

In the world of Parkinson’s research, a great deal of new research and news was reported:

In September 2021, there were 1,077 research articles added to the Pubmed website with the tag word “Parkinson’s” attached (9,178for all of 2021 so far). In addition, there was a wave to news reports regarding various other bits of Parkinson’s research activity (clinical trials, etc).

The top 4 pieces of Parkinson’s news

Continue reading “Monthly Research Review – September 2021”

When sonic hedgehog goes dyskinetic

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Dyskinesias are involuntary muscle movements associated with long-term use of levodopa therapy (use of levodopa is not a certainty for developing dyskinesias, but there is an association). A better understanding of the underlying biology of dyskinesias is required in order to alleviate this condition for those affected by it.

Recently researchers have reported that an imbalance between dopamine levels (associated with levodopa treatment) and a protein called sonic hedgehog could be partly underlying the development of dyskinesias.

In today’s post, we will explore what sonic hedgehog does in the body, provide an overview of dyskinesias, review the new research, and discuss the implications of the research.

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The humble fly (Drosophila). Source: Ecolab

No one should ever be allowed to say that fly geneticists don’t have a sense of humour.

When it comes to the naming of genes, these guys are the best!

A gene is a section of DNA that provides the instructions for making a particular protein, and each gene has been given a name. Some names are just boring – such as leucine-rich repeat kinase 2 (or LRRK2) – while other names are rather amusing. Especially the fly genes.

For example, there is one fly gene called “indy”, which stands for I‘m Not Dead Yet. Flies with genetic variation in this gene have longer than average lifespans (Click here to read more about this):

Source: Sciencemag

Another amusingly named gene is “Cheap Date”. Flies with a genetic mutation in this gene are very susceptible to alcohol (Click here to read more about this):

Source: Lordsofthedrinks

There is also “Ken and Barbie” – genetic variations in this gene result in a lack of external genitalia (Click here to read more about this).

The fly research community have a lot of really great names for genes: lunatic fringe”, “headcase” and “mothers against decapentaplegia (MAD)”

But one of the most popular gene names in all of biology is a gene called “Sonic Hedgehog”

What is Sonic Hedghog?

Continue reading “When sonic hedgehog goes dyskinetic”

Monthly Research Review – August 2021

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At the end of each month the SoPD writes a post which provides an overview of some of the major pieces of Parkinson’s-related research that were made available during August 2021.

The post is divided into 10 parts based on the type of research:

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So, what happened during August 2021?

In world news:

August 6th – SpaceX stacked the Super Heavy Booster 4 and Star Ship 20 (Click here to read more about this)

 

August 9th – The Intergovernmental Panel on Climate Change releases the first part of its Sixth Assessment Report, which concludes that the effects of human-caused climate change are now “widespread, rapid, and intensifying“.

 

August 13th – Gino Strada passed away – and shame on you if you don’t know who he is

 

August 15th – The 50th anniversary of Nixon closing the “gold window” to foreign countries and ‘temporarily‘ abandoning the Bretton Woods Agreement, removing the gold standard and starting a new age of fiat currencies.

 

August 28th – The world’s northernmost island – a small patch of land measuring 60 x 30 metres – was announced by scientists off the coast of Greenland. The name Qeqertaq Avannarleq is proposed, which means “the northernmost island” (original!).

In the world of Parkinson’s research, a great deal of new research and news was reported:

In August 2021, there were 765 research articles added to the Pubmed website with the tag word “Parkinson’s” attached (8,101 for all of 2021 so far). In addition, there was a wave to news reports regarding various other bits of Parkinson’s research activity (clinical trials, etc).

The top 4 pieces of Parkinson’s news

Continue reading “Monthly Research Review – August 2021”