Forget Special K, maybe focus on LysoK

# # # #

Over the last 20 years, researchers have identified a number of genetic variations that can confer an increased risk of developing Parkinson’s. Tiny alterations in regions of DNA (called genes) – which provide the instructions for making a protein – can increase one’s chances of Parkinson’s.

A better understanding of the biological pathways associated with these genetic risk factors is opening up vast new areas of research.

Recently researchers have been exploring the biology behind one particular genetic risk factor – involving a gene called TMEM175 – and they have discovered something quite unexpected: While one genetic variation in the TMEM175 gene increases the risk of Parkinson’s, another variation reduces it.

In today’s post, we will explore the biology of TMEM175, review what the results of the new research indicate, and consider why these findings might be interesting in terms of potential future therapeutic targets.

# # # #


Wadlow (back left). Source: Telegraph

Robert Pershing Wadlow was always in the back of school photos.

Born February 22nd 1918, Wadlow’s birth certificate indicated that he was “normal height and weight“, but from that point onwards, there was nothing normal about his rate of growth.

By the time, Robert was 8 years old, he was taller than his father (he was 6 foot/183cm). And eight years later when he turned 16, Robert was 8 foot 1 (2.47 m)… and he was still growing.

Here is a picture of him with his family at 19 years of age:

Source: Businessinsider

Robert was the tallest person in recorded history, and at the time of his death – at the tragically young age of 22 – Robert was almost 9 feet tall (8 ft 11; 2.72 m)… and still growing.

His incredible growth was caused by a condition called hyperplasia of his pituitary gland. This condition that results in an overactive pituitary gland which causes an abnormally high level of the human growth hormone to be produced.

Source: Britannica

Human growth hormone (or somatotropin) is a peptide hormone that belongs to a much larger group of molecules that are referred to as growth factors.

In general terms, growth factors are small molecule that plays an important and fundamental role in biology. They stimulate cell proliferation, wound healing, and occasionally cellular differentiation.

And Robert’s story is an example of how powerful the effect these tiny molecules can have.

Growth factors are secreted from one cell and they float around in the extracellular world until they interact with another cell and initiate survival- and growth-related processes.

Source: Wikimedia

We have often discussed growth factors on this website in the past, with posts of growth factors like GDNF (Click here to read a SoPD about this) and CDNF (Click here to read a SoPD post on this). These discussions have largely focused on how growth factors could have neuroprotective and regenerative potential for Parkinson’s, stimulating survival and growth of cells.

Recently, however, new research has been published that demonstrates how some of these growth factors could be influencing an entirely different aspect of cellular biology that is connected to Parkinson’s: lysosomal function.

What is lysosomal function?

Continue reading “Forget Special K, maybe focus on LysoK”

Differentiating PD from MSA

 

There is a lot of clinical and biological similarities between the neurodegenerative conditions of Parkinson’s and multiple systems atrophy (or MSA).

Recently, however, researchers have published a report suggesting that these two conditions may be differentiated from each other using a technique analysing protein in the cerebrospinal fluid – the liquid surrounding the brain, that can be accessed via a lumbar puncture.

Specifically, the method differentiates between different forms of a protein called alpha synuclein, which is associated with both conditions.

In today’s post, we will look at what multiple systems atrophy (MSA) is, discuss how this differentiating technique works, and explore what it could mean for people with either of these conditions.

     


Source: Assessment

Getting a diagnosis of Parkinson’s can be a tricky thing.

For many members of the affected community, it is a long and protracted process.

Firstly, there will be multiple visits with doctors and neurologists (and perhaps some brain imaging) until one is finally given a diagnosis of PD. There are a number of conditions that look very similar to Parkinson’s, which must be ruled out before a definitive diagnosis can be proposed.

But even after being diagnosed, there are a group of conditions that look almost identical to Parkinson’s. And many people will be given a diagnosis of Parkinson’s before they are then given a corrected diagnosis of one of these other conditions.

Can you give me an example of one of these other conditions?

Sure. A good example is multiple systems atrophy.

What is Multiple System Atrophy?

Continue reading “Differentiating PD from MSA”

The TAU of Parkinson’s

Here at the SoPD, we regularly talk about the ‘bad boy’ of Parkinson’s disease – a protein called Alpha Synuclein.

Twenty years ago this year, genetic variations were identified in the alpha synuclein gene that increase one’s risk of developing Parkinson’s. In addition, alpha synuclein protein was found to be present in the Lewy bodies that are found in the brains of people with Parkinson’s. Subsequently, alpha synuclein has been widely considered to be the villain in this neurodegenerative condition and it has received a lot of attention from the Parkinson’s research community.

But it is not the only protein that may be playing a role in Parkinson’s.

Today’s post is all about TAU.


Source: Wallpaperswide

I recently informed my wife that I was thinking of converting to Taoism.

She met this declaration with more of a smile than a look of shock. And I was expecting the latter, as shifting from apatheism to any form of religious belief is a bit of a leap you will appreciate.

When asked to explain myself, I suggested to her that I wanted to explore the mindfulness of what was being proposed by Lao Tzu (the supposed author of the Tao Te Ching – the founding document of Taoism).

This answer also drew a smile from her (no doubt she was thinking that Simon has done a bit of homework to make himself sound like he knows what he was talking about).

But I am genuinely curious about Taoism.

Most religions teach a philosophy and dogma which in effect defines a person. Taoism – which dates from the 4th century BCE – flips this concept on its head. It starts by teaching a single idea: The Tao (or “the way”) is indefinable. And then it follows up by suggesting that each person should discover the Tao on their own terms. Given that most people would prefer more concrete definitions in their own lives, I can appreciate that a lot of folks won’t go in for this approach.

Personally speaking, I quite like the idea that the Tao is the only principle and everything else is a just manifestation of it.

According to Taoism, salvation comes from just one source: Following the Tao.

Source: Wikipedia

Oh and don’t worry, I’m not going to force any more philosophical mumbo jumbo on you – Taoism is just an idea I am exploring as part of a terribly clichéd middle-life crisis I’m working my way through (my wife’s actual response to all of this was “why can’t you just be normal and go buy a motor bike or something?”).

My reason for sharing this, however, is that this introduction provides a convenient segway to what we are actually going to talk about in this post.

You see, some Parkinson’s researchers are thinking that salvation from neurodegenerative conditions like Parkinson’s will come from just one source: Following the TAU.

What is TAU?

Continue reading “The TAU of Parkinson’s”

Editorial: Orphan drug tax credit

Here at the SoPD we are politically neutral.

That said, I will report on events that directly impact the world of Parkinson’s disease research (without adding too much in the way of personal opinions). 

Recent legislation introduced in the US congress could have major implications for subsets of the Parkinson’s disease community, as well as a host of additional medical conditions. The legislation is seeking to remove the orphan drug tax credit.

In today’s post, we will have a look at what the orphan drug tax credit is, and why its removal could be damaging for Parkinson’s.


capitol-hill-parking

The United States Capitol. Source: SpotHeroBlog

On November 2, House Republican lawmakers introduced a bill to reform the U.S. tax code. The complicated tax system probably needs a serious clean up, but the legislation will also terminate something called the orphan drug tax credit.

What is the orphan drug tax credit?

Continue reading “Editorial: Orphan drug tax credit”