Link found between ALS and SMA

first_imgResearchers of motor neuron diseases have long had a hunch that two fatal diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), might somehow be connected. A new study confirms that this link exists.“Our study is the first to link the two diseases on a molecular level in human cells,” said Robin Reed, Harvard Medical School professor of cell biology and lead investigator of the study.The results will be published online today in Cell Reports.ALS, or Lou Gehrig’s disease, which has an adult onset, affects neurons that control voluntary muscles. As a result, muscles start to weaken, and patients eventually lose the ability to move their arms, legs, and other parts of the body. In contrast, patients who have SMA tend to be infants and young children. Symptoms are similar to ALS, with lack of ability to control muscles being the major symptom. In both diseases, the most common cause of death is the loss of muscle function in the chest, resulting in respiratory failure.Previous studies have shown that one of the causes of ALS is mutation of the FUS gene, and that a deficiency in a protein called the survival of motor neuron (SMN) protein causes SMA disease. The SMN protein is present in bodies in the nucleus known as Gemini of coiled bodies, or gems. Reed’s lab connected the FUS protein to the SMN protein and the formation of gems in cellular nuclei.“Nobody really knows what the function of gems are,” said Reed. “The consensus so far is that they might be involved in biogenesis of crucial nuclear RNAs.”The researchers arrived at this pathway by studying human fibroblasts, cells that form the basis of connective tissue. “Unlike other studies of ALS and SMA, in which post-mortem tissue is normally used, we used fibroblasts from patients. These cells are easily accessible because they can be obtained from patients’ skin, and [they] may provide a better idea of what happens in the human body,” said Reed.Reed and colleagues began the study by showing that the FUS protein is essential for normal gem levels. Without it, gem levels in ALS fibroblasts are much lower than in control fibroblasts.This feature of ALS fibroblasts led the team to connect the disease with SMA. Previous studies had shown that when cells were deficient in SMN protein, fibroblasts also lacked gems in the nuclei. The loss of gems as a final result in both the SMA and ALS pathways led Reed and her team to believe that they might, in fact, be part of one larger pathway.“The question now is whether the loss of gems is a cause of the disease or a marker for the disease,” said Reed.Reed is hopeful that even if the loss of gems is a marker, it could be used as a diagnostic tool to determine whether someone who is presenting symptoms has ALS. “We will need to find out if the loss of gems is applicable to all cases of ALS or if it is specific to ALS patients with mutations in the FUS gene,” added Reed.Either way, Reed describes these findings as killing two birds with one stone. “This common pathway may mean common treatment and resources.”This work was supported by grants from the National Institutes of Health, as well as aid from Toyobo Biotechnology Foundation, the ALS Therapy Alliance, and the ALS Association.last_img read more

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Renovated Camp Hill delight hits the market for first time in 11 years

first_imgIt is now ultra-modern.More from newsCrowd expected as mega estate goes under the hammer7 Aug 2020Hard work, resourcefulness and $17k bring old Ipswich home back to life20 Apr 2020Downstairs is a double lockup garage, a powder room, media room and an open-plan kitchen, living and dining room, along with a walk-in pantry.The first floor has polished timber floorboards, which blend seamlessly with a deck at the rear of the property. The McAllisters spent time living in one bedroom while renovating this property.“It had two bedrooms that were bright pink when we bought it,” Mrs McAllister said.“We started renovations straight away, did some demolition and the entire property is contemporary now.”The 31 Ernest St home’s bedrooms are upstairs, with a bathroom and separate toilet, and the main bedroom with a walk-in wardrobe an ensuite with double vanity. The house at 31 Ernest St, Camp Hill, is for sale.PARIS and Ciaran McAllister lived in one tiny room while renovating their Camp Hill house 11 years ago.The reality is much different now, with the couple sharing three large bedrooms and multiple living areas with their three young children. Polished timber floorboards sweep through the home.The deck has a timber feature benchseat to one side, and a timber feature wall and bench with an in-built barbecue and bar fridge to the other.Directly off this space is the pool, which is built above ground to be in line with the house.center_img The pool is level with the entertainment area.This area is Mrs McAllister’s favourite of the property.“We’re always entertaining on the weekends,” she said.“(The placement of the pool) means the kids can swim while we entertain, and you have the knowledge they’re safe because you’re sitting on the deck watching them, rather than the pool being further into the backyard.” The main bedroom is large.Mrs McAllister said the family would miss living in the neighbourhood.“All the neighbours know each other, so its going to be really sad to move. It’s got a really good community feel.”Video Player is loading.Play VideoPlayNext playlist itemMuteCurrent Time 0:00/Duration 0:51Loaded: 0%Stream Type LIVESeek to live, currently playing liveLIVERemaining Time -0:51 Playback Rate1xChaptersChaptersDescriptionsdescriptions off, selectedCaptionscaptions settings, opens captions settings dialogcaptions off, selectedQuality Levels720p720pHD576p576p432p432p270p270pAutoA, selectedAudio Tracken (Main), selectedFullscreenThis is a modal window.Beginning of dialog window. Escape will cancel and close the window.TextColorWhiteBlackRedGreenBlueYellowMagentaCyanTransparencyOpaqueSemi-TransparentBackgroundColorBlackWhiteRedGreenBlueYellowMagentaCyanTransparencyOpaqueSemi-TransparentTransparentWindowColorBlackWhiteRedGreenBlueYellowMagentaCyanTransparencyTransparentSemi-TransparentOpaqueFont Size50%75%100%125%150%175%200%300%400%Text Edge StyleNoneRaisedDepressedUniformDropshadowFont FamilyProportional Sans-SerifMonospace Sans-SerifProportional SerifMonospace SerifCasualScriptSmall CapsReset restore all settings to the default valuesDoneClose Modal DialogEnd of dialog window.This is a modal window. This modal can be closed by pressing the Escape key or activating the close button.Close Modal DialogThis is a modal window. This modal can be closed by pressing the Escape key or activating the close button.PlayMuteCurrent Time 0:00/Duration 0:00Loaded: 0%Stream Type LIVESeek to live, currently playing liveLIVERemaining Time -0:00 Playback Rate1xFullscreenStarting your hunt for a dream home00:51last_img read more

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Stephen ‘not ready for Ireland’

first_imgStoke manager Mark Hughes does not feel the time is right for Stephen Ireland to return to international football. Hughes said: “He is doing very well, his fitness is improving. “He needed good quality work within the senior group. “Prior to coming here he was just working with the under-21 development squad. “That takes the edge off your work, the intensity of work is not what you need to make an impact at Premier League level. The more work he does with us the better he will become.” The midfielder has said he is willing to consider making himself available for Ireland again following the departure of Giovanni Trapattoni as manager. But the 27-year-old is still trying to establish himself at Stoke, where he is on a season-long loan, after falling out of favour at Aston Villa. Ireland has made just four appearances for the Potters, three off the bench, since joining the club last month and that has been his only senior football since January. On that basis, Hughes feels it is too soon to consider playing again for Ireland, whom he has not represented since 2007. It had been suggested he could return for this month’s World Cup qualifiers but interim national boss Noel King decided against calling him up, despite establishing contact. Hughes said: “Stephen is still trying to get back to the levels he knows he can reach and at the moment he is not quite there. “He is very close, but I think getting involved with the international squad would be a little bit premature for him at the moment. “But certainly he has said he is more than happy to have a conversation in regard to being involved again. “Probably the actual position of the national team manager needs to be resolved and then he can have that conversation and move it forward.” Ireland has not played for his country since he lied about the death of both of his grandmothers after pulling out of the squad for a European Championship qualifier in the Czech Republic six years ago. Press Associationlast_img read more

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WORLD CUP 2018 QUALIFIER: FIFA Appoints Africa’s Best Ref to Take…

first_imgFootball’s world ruling body, FIFA, has appointed respected Gambian official, Bakary Papa Gassama, as referee for next month’s 2018 FIFA World Cup qualifying match between Nigeria and Algeria, scheduled for the Godswill Akpabio International Stadium, Uyo.The Match-day 2 encounter between two of the fiercest rivals in African football will see Jean-Claude Birumushahu from Burundi as assistant referee 1, Marwa Range from Kenya as assistant referee 2 and Gassama’s compatriot, Maudo Jallow as fourth official.FIFA has also appointed Jean-Olivier Mbera from Gabon as referee assessor, Ghanaian Anthony Baffoe as match commissioner and Nicholas Chumba Musonye from Kenya as security officer.Gassama, 37, and who has been an international referee since 2008, is one of the most respected referees in Africa. He has already been appointed as referee for this year’s CAF Champions League final, second leg clash between Zamalek of Egypt and Mamelodi Sundowns of South Africa, taking place in Alexandria on Sunday, 23rd October. Birumushahu and Range will also be part of the officiating crew for that match, at which Nigeria’s Paul Bassey will serve as General Coordinator.Group B leaders Nigeria welcome the Fennecs to the Godswill Akpabio International Stadium on Saturday,  November 12 in one of the most anticipated matches of the Match-day 2 of the African qualifying race.Meanwhile, the Nigeria Football Federation (NFF) has won a protest it quietly launched following the release of the official match appointment, which set the kick-off time at 5.30pm.“The information we sent to FIFA was that we wanted the match to start at 5pm; we were surprised when the match appointment was released and the kick-off time was set at 5.30pm. The NFF immediately protested and eventually, on Wednesday morning, FIFA agreed that the match will start at 5pm,” NFF’s Director of Competitions, Bola Oyeyode, confirmed to thenff.com.Share this:FacebookRedditTwitterPrintPinterestEmailWhatsAppSkypeLinkedInTumblrPocketTelegramlast_img read more

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