Scientists have identified a genetic mutation associated with a form of early-onset Parkinsonism in an Omani family, revealing insights into how the disease develops.
The breakthrough was made after the family sought answers for why two daughters developed severe Parkinsonism – a group of disorders that share similar symptoms, including motor dysfunction and cognitive decline, at a young age. That led to the identification of a mutation in a gene known as SGIP1, which was not previously linked to the conditions.
Parkinson’s disease accounts for about 80 per cent of all cases of Parkinsonism. However, other conditions include multiple system atrophy or corticobasal degeneration. The most common forms usually develop after the age of 60, but some can develop earlier. Juvenile Parkinsonism begins on average at 17.
However, understanding how the mutation led to the development of the disease required further work. To do that, the women’s doctors at Sultan Qaboos University Hospital in Oman collaborated with a team at the VIB-KU Leuven Centre for Brain and Disease Research in Belgium.
They created a model using fruit flies which lacked the gene and developed symptoms similar to those seen in Parkinsonism. Closer examination revealed that the mutation caused defects in synapses, which allow brain cells to connect and communicate with each other.
Crucial structures in the synapses, which are responsible for recycling and breaking down proteins, were found to be missing – suggesting the [gene] mutation interferes with the brain’s ability to maintain healthy synapses, which may play a significant role in the development of Parkinsonism.
Prof Patrik Verstreken of VIB-KU told The National the discovery provides new insights into what drives the condition at a young age.
“It also adds to the growing understanding of how synaptic dysfunction contributes to neurodegenerative diseases more broadly and Parkinsonism in particular,” he said. “Such problems could explain the movement difficulties, the behavioural problems and brain cell degeneration.”
However, it is not clear whether the same process involving the gene mutation plays a role in the more common, late-onset form of Parkinson’s. More research is needed, said Prof Verstreken.
“This work reinforces the idea that maintaining synapse health is essential for neurone survival throughout life,” said Dr Marianna Decet, first author of the study. “Our findings highlight the importance of synaptic proteostasis – the balance and quality control of proteins in synapses – in protecting against neurological diseases like Parkinsonism.”
Sabine Kuenen, research partner and co-author of the study, said the discovery shows that even small changes in the genetic code can have “a profound impact” on brain function.
In June, a man living with Parkinson's in Scotland called a procedure to cure his tremors a “miracle” after becoming the first person in the UK to receive the treatment as part of a National Health Service clinical trial.
About 10 million people have Parkinson’s worldwide. It can be difficult to diagnose because there is currently no test, and symptoms – such as tremors, mild memory and thinking problems and sleep issues – vary and can often be mistaken for other illnesses.
However, scientists have recently also made breakthroughs in the detection of the disease, developing a blood test that uses artificial intelligence. It can predict a person’s risk of Parkinson’s seven years before the onset of symptoms by analysing eight blood-based biomarkers, whose concentrations are altered in patients with the condition. Another diagnostic test is being developed using a minimally invasive skin biopsy, which looks for an abnormal protein – phosphorylated alpha-synuclein (P-SYN) – associated with some degenerative brain disorders.
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Dates for the diary
To mark Bodytree’s 10th anniversary, the coming season will be filled with celebratory activities:
- September 21 Anyone interested in becoming a certified yoga instructor can sign up for a 250-hour course in Yoga Teacher Training with Jacquelene Sadek. It begins on September 21 and will take place over the course of six weekends.
- October 18 to 21 International yoga instructor, Yogi Nora, will be visiting Bodytree and offering classes.
- October 26 to November 4 International pilates instructor Courtney Miller will be on hand at the studio, offering classes.
- November 9 Bodytree is hosting a party to celebrate turning 10, and everyone is invited. Expect a day full of free classes on the grounds of the studio.
- December 11 Yogeswari, an advanced certified Jivamukti teacher, will be visiting the studio.
- February 2, 2018 Bodytree will host its 4th annual yoga market.
Ads on social media can 'normalise' drugs
A UK report on youth social media habits commissioned by advocacy group Volteface found a quarter of young people were exposed to illegal drug dealers on social media.
The poll of 2,006 people aged 16-24 assessed their exposure to drug dealers online in a nationally representative survey.
Of those admitting to seeing drugs for sale online, 56 per cent saw them advertised on Snapchat, 55 per cent on Instagram and 47 per cent on Facebook.
Cannabis was the drug most pushed by online dealers, with 63 per cent of survey respondents claiming to have seen adverts on social media for the drug, followed by cocaine (26 per cent) and MDMA/ecstasy, with 24 per cent of people.
The specs
Engine: 3.0-litre six-cylinder turbo
Power: 398hp from 5,250rpm
Torque: 580Nm at 1,900-4,800rpm
Transmission: Eight-speed auto
Fuel economy, combined: 6.5L/100km
On sale: December
Price: From Dh330,000 (estimate)
COMPANY PROFILE
Name: Kumulus Water
Started: 2021
Founders: Iheb Triki and Mohamed Ali Abid
Based: Tunisia
Sector: Water technology
Number of staff: 22
Investment raised: $4 million
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GOLF’S RAHMBO
- 5 wins in 22 months as pro
- Three wins in past 10 starts
- 45 pro starts worldwide: 5 wins, 17 top 5s
- Ranked 551th in world on debut, now No 4 (was No 2 earlier this year)
- 5th player in last 30 years to win 3 European Tour and 2 PGA Tour titles before age 24 (Woods, Garcia, McIlroy, Spieth)
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Result
UAE (S. Tagliabue 90 1') 1-2 Uzbekistan (Shokhruz Norkhonov 48', 86')
The specs: Lamborghini Aventador SVJ
Price, base: Dh1,731,672
Engine: 6.5-litre V12
Gearbox: Seven-speed automatic
Power: 770hp @ 8,500rpm
Torque: 720Nm @ 6,750rpm
Fuel economy: 19.6L / 100km
Test
Director: S Sashikanth
Cast: Nayanthara, Siddharth, Meera Jasmine, R Madhavan
Star rating: 2/5
Tips from the expert
Dobromir Radichkov, chief data officer at dubizzle and Bayut, offers a few tips for UAE residents looking to earn some cash from pre-loved items.
- Sellers should focus on providing high-quality used goods at attractive prices to buyers.
- It’s important to use clear and appealing photos, with catchy titles and detailed descriptions to capture the attention of prospective buyers.
- Try to advertise a realistic price to attract buyers looking for good deals, especially in the current environment where consumers are significantly more price-sensitive.
- Be creative and look around your home for valuable items that you no longer need but might be useful to others.
Sholto Byrnes on Myanmar politics
FULL%20FIGHT%20CARD
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TERMINAL HIGH ALTITUDE AREA DEFENCE (THAAD)
What is THAAD?
It is considered to be the US's most superior missile defence system.
Production:
It was created in 2008.
Speed:
THAAD missiles can travel at over Mach 8, so fast that it is hypersonic.
Abilities:
THAAD is designed to take out ballistic missiles as they are on their downward trajectory towards their target, otherwise known as the "terminal phase".
Purpose:
To protect high-value strategic sites, such as airfields or population centres.
Range:
THAAD can target projectiles inside and outside the Earth's atmosphere, at an altitude of 150 kilometres above the Earth's surface.
Creators:
Lockheed Martin was originally granted the contract to develop the system in 1992. Defence company Raytheon sub-contracts to develop other major parts of the system, such as ground-based radar.
UAE and THAAD:
In 2011, the UAE became the first country outside of the US to buy two THAAD missile defence systems. It then stationed them in 2016, becoming the first Gulf country to do so.
Kanguva
Director: Siva
Stars: Suriya, Bobby Deol, Disha Patani, Yogi Babu, Redin Kingsley
How Islam's view of posthumous transplant surgery changed
Transplants from the deceased have been carried out in hospitals across the globe for decades, but in some countries in the Middle East, including the UAE, the practise was banned until relatively recently.
Opinion has been divided as to whether organ donations from a deceased person is permissible in Islam.
The body is viewed as sacred, during and after death, thus prohibiting cremation and tattoos.
One school of thought viewed the removal of organs after death as equally impermissible.
That view has largely changed, and among scholars and indeed many in society, to be seen as permissible to save another life.
From Zero
Artist: Linkin Park
Label: Warner Records
Number of tracks: 11
Rating: 4/5
