The biggest challenge in researching rare diseases lies not only in diagnosis and treatment but also in developing appropriate models to test potential drug molecules and interventions. Factors such as the young age of affected children, the rarity of the condition, and limited funding all contribute to these challenges. However, we are actively working to overcome these barriers.
We have brought children from various parts of the world to our platform and created neuronal models to accelerate the pace of research.
Contact us to learn more about our platform for mitochondrial rare diseases.
hubs.la/Q04lwdVY0
#MitochondrialDisease #Neuroscience #StemCells #POLG #DrugDiscovery #POLG #NeuroResearch Stemnovate Limited
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Following a few weeks away from our Barton base, today we returned in NPAS22 (G-POLG) our new helipad is looking good!!
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Jun 15
The biggest challenge in researching rare diseases lies not only in diagnosis and treatment but also in developing appropriate models to test potential drug molecules and interventions. Factors such as the young age of affected children, the rarity of the condition, and limited funding all contribute to these challenges. However, we are actively working to overcome these barriers.
We have brought children from various parts of the world to our platform and created neuronal models to accelerate the pace of research.
Contact us to learn more about our platform for mitochondrial rare diseases.
hubs.la/Q04lmBCg0
#MitochondrialDisease #Neuroscience #StemCells #POLG #DrugDiscovery #POLG #NeuroResearch Stemnovate Limited
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This hits very hard . This brave man did his duty and served his country . He now must face his greatest trials.
Did all of his children inherit a mutation from both parents or two different pathogenic mutations in the POLG. The child he buried did they have Alpers - Huttenlocher Syndrome. Need to know if the mutation is homozygous or combined with another variant.
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Jun 13
The biggest challenge in researching rare diseases lies not only in diagnosis and treatment but also in developing appropriate models to test potential drug molecules and interventions. Factors such as the young age of affected children, the rarity of the condition, and limited funding all contribute to these challenges. However, we are actively working to overcome these barriers.
We have brought children from various parts of the world to our platform and created neuronal models to accelerate the pace of research.
Contact us to learn more about our platform for mitochondrial rare diseases.
hubs.la/Q04ljQQg0
#MitochondrialDisease #Neuroscience #StemCells #POLG #DrugDiscovery #POLG #NeuroResearch Stemnovate Limited
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40 minutos desde el Polg Calonge a Santa Justa. Bonita #Sevilla se le está quedando al Alcalde de Tomares @Ayto_Sevilla
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Jun 12
Denkbare Vorwürfe:
- Volksverhetzung; Teile der Bevölkerung fühlt sich attackiert.
- Gefahrenabwehr: Der Fahnenstock könnte zum Schlagen genutzt werden. Basis der Polizeigesetze der Bundesländer (z. B. § 26 PolG BW)
- polizeilichen Notstand (z. B. § 9 PolG BW)
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Jun 11
Most people have never heard of POLG, but for the families affected by it, the impact is profound.
The CortiCare Podcast welcomes Dr. Amy Goldstein and Dr. Mary Kay Koenig for an important conversation about POLG, a rare mitochondrial disease that can affect children and adults alike.
Together, they break down the science behind the disease, discuss the challenges patients face, and share why increased awareness and research are so critical.
At CortiCare, we're proud to support the neurological community through education, EEG services, and conversations that help bring greater understanding to complex conditions.
Listen to The CortiCare Podcast on:
- YouTube: youtube.com/playlist?list=PL…
- Apple: podcasts.apple.com/us/podcas…
- iHeart Radio: iheart.com/podcast/269-the-c…
- Spotify: open.spotify.com/show/0j0xF3…
- RSS Feeds: rss.com/podcasts/the-cortica…
#POLG #MitochondrialDisease #RareDisease #Neurology #Epilepsy #EEG #Neurodiagnostics #TheCortiCarePodcast
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Jun 11
Join us at 11am EST today for our POLG Support Call! Click the link to visit our website and learn more mitoaction.org/mitoaction-ev…
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Jun 10
The biggest challenge in researching rare diseases lies not only in diagnosis and treatment but also in developing appropriate models to test potential drug molecules and interventions. Factors such as the young age of affected children, the rarity of the condition, and limited funding all contribute to these challenges. However, we are actively working to overcome these barriers.
We have brought children from various parts of the world to our platform and created neuronal models to accelerate the pace of research.
Contact us to learn more about our platform for mitochondrial rare diseases.
hubs.la/Q04kRRCB0
#MitochondrialDisease #Neuroscience #StemCells #POLG #DrugDiscovery #POLG #NeuroResearch Stemnovate Limited
1
Könnte auch das SAT1-Frühstücksfernsehen sein. Nur „Experten“und Journalisten von NZZ,BILD,wElt,BZ. Fehlen noch Nuis(o.ä.),DPolG | PolG,Focus,Claus Strunz Ruhs,Ronzi. Und dann müssen die Moderator*innen (vermeintlich)bestürzt tun und angefasst sagen,woher in DE die Spaltung kommt
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The biggest challenge in researching rare diseases lies not only in diagnosis and treatment but also in developing appropriate models to test potential drug molecules and interventions. Factors such as the young age of affected children, the rarity of the condition, and limited funding all contribute to these challenges. However, we are actively working to overcome these barriers.
We have brought children from various parts of the world to our platform and created neuronal models to accelerate the pace of research.
Contact us to learn more about our platform for mitochondrial rare diseases.
hubs.la/Q04kG7sZ0
#MitochondrialDisease #Neuroscience #StemCells #POLG #DrugDiscovery #POLG #NeuroResearch Stemnovate Limited
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Jun 7
Ich hab jetzt zuerst in das Nature-Paper geschaut und das werde ich mir auch noch näher anschauen - denn das Phänomen und Polg /D257A erinnert natürlich hieran...
x.com/Boris25309876/status/2…
...und wenn man nach "Polg/D257A alu y" sucht, wird's tatsächlich RICHTIG abgefahren!
Jun 5
Dass wir bis heute quasi auf der Stelle treten, kommt nicht von ungefähr.
Der Fokus auf DNA-Kontaminationen lenkt eigentlich nur von der potentiell relevanten dsRNA ab und bei den Lipiden müsste man sich fragen, warum ausgerechnet diese und nicht andere:
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Jó éjt mindenkinek! Kiveve a vatnikoknak és a hutnikoknak.
Hasznos tanács a Harcosok kl... A Digitális Polg... A Védvonalon állóknak. 😂🤣
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May 20
Wir fragen Heiko Teggatz: Wie gefährlich wird eine AfD-Regierung in Sachsen-Anhalt? Der neue PolG-Boss fordert: „Keine Parteisoldaten in beamteten Funktionen!" Das große Interview am Mittwoch: alexander-wallasch.de/gesell…
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Calling all POLG families attending our #MitoMed Conference. You’ll have the opportunity to connect with fellow POLG families in our disease-specific networking session, hear about POLG-related therapy updates from industry partners, network, and more. umdfconference.org/polg-prog…
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May 13
Grok: Der Platzverweis für zwei ganze Städte bis Mitternacht ist höchstwahrscheinlich unverhältnismäßig und damit rechtswidrig – vor allem, wenn er allein auf dein Schweigen bei einer Routine-Verkehrskontrolle gestützt wurde. Ein einfacher Platzverweis braucht eine konkrete Gefahr für die öffentliche Sicherheit/Ordnung (§ 30 PolG BW oder vergleichbare Landesnormen wie § 31 HSOG). Schweigen ist kein solcher Grund.
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May 11
Part 3: Mitochondrial dysfunction
Mitochondrial dysfunction is a key contributor in many epilepsy syndromes, particularly metabolic/degenerative forms and some drug-resistant cases.
Magnetic resonance spectroscopy consistently shows elevated lactate (from anaerobic glycolysis), reduced phosphocreatine (high-energy phosphate reserve), and lower N-acetylaspartate (neuronal integrity marker) in epileptic foci and even non-lesional brain.
This reflects chronic energy deficit and inefficient oxidative phosphorylation.
The core mechanisms seem to be once again (similar to bipolar for example):
-Impaired pyruvate dehydrogenase complex (PDH).
PDH converts pyruvate (from glycolysis) to acetyl-CoA for the TCA cycle. Deficiency (genetic or acquired) → pyruvate shunts to lactate → elevated brain lactate, acidosis.
Electron transport chain (ETC) defects: Complexes I–IV disruptions reduce ATP synthesis, increase reactive oxygen species (ROS).
-mtDNA mutations/polymorphisms:
POLG (mitochondrial polymerase gamma): Most common nuclear gene causing mitochondrial epilepsy.
MT-ATP6 (m.8993T>G/C)
MT-TL1 (m.3243A>G)
Basically: Low ATP → failure of energy-dependent processes:
-Na /K -ATPase pump collapse → membrane depolarization, reduced seizure threshold.
-Calcium homeostasis disruption → excessive neuronal firing.
-Impaired neurotransmitter clearance (glutamate transporters need ATP).
Astrocyte dysfunction → reduced glycogen storage, poor buffering.
This is exactly why high fevers trigger seizures in so many people with epilepsy (metabolic demands skyrocket in an already compromised system).
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この報告は、mRNAワクチン接種がミトコンドリア脆弱性を悪用した心筋炎誘導装置であることを、研究として記録したものである。心筋生検で確認された形態異常、Polg変異マウスでの心機能低下、人工脂質によるROS増加とRIPK3経路活性化、性差の分子基盤は、すべて接種被害の不可逆性を示す。
ALT 筑波大学医学医療系が2026年4月9日に公表したプレスリリースおよび同年4月1日掲載のNature Communications論文は、mRNAワクチン接種がミトコンドリア機能低下状態の個体において心筋炎を誘発する具体的な分子機構を、患者心筋生検組織解析と遺伝子改変マウスモデル実験で示したものである。 この報告は、以下の構造的被害事実を制度内部から記録したものとして位置づけられる。 患者心筋組織解析の結果 mRNAワクチン接種後に心筋炎を発症した日本人患者（平均年齢約22.6歳、男性4人、女性2人）の心筋生検組織において、ミトコンドリアの形態異常と酸化的リン酸化関連遺伝子の発現低下が確認された。これらの患者は接種前に顕在的な心疾患歴がなかったにもかかわらず、心筋細胞内のエネルギー産生器官であるミトコンドリアがすでに脆弱性を抱えていた状態でワクチンによる攻撃を受け、機能破綻に至ったことを示している。 マウスモデル実験の結果 ミトコンドリアDNA複製酵素ポリメラーゼγ（Polg）遺伝子に部分的な校正機能低下変異を導入したマウス（Polg /D257Aマウス）は、通常状態では健康に生育するが、mRNAワクチン接種により左室駆出率の顕著な低下と炎症細胞の浸潤が発生した。この病態はヒト心筋炎に類似しており、ミトコンドリア脆弱性がワクチン誘発性心筋障害の直接的原因であることを実験的に証明した。 分子機構の詳細 ワクチンに含まれる人工脂質がミトコンドリア由来の活性酸素（ROS）を過剰産生させる。この酸化ストレスがRIPK3キナーゼを介したネクロプトーシス（炎症性細胞死）を誘導し、心筋細胞の内容物が周囲に放出されて炎症を増幅させる。ミトコンドリア特異的抗酸化剤やネクロプトーシス阻害剤の投与により心機能低下が抑制された事実は、人工脂質成分が心筋障害の引き金であることを明確にしている。 性差に関する所見 若年男性における心筋炎発症リスクが若年女性の約8〜10倍である既知の事実に一致して、女性ホルモンエストロゲン関連シグナルを活性化する薬剤（バゼドキシフェンなど）が心機能低下を予防した。この結果は、男性特有のミトコンドリア脆弱性が高い集団が、mRNAワクチンによる系統的な心臓破壊の標的となっていることを裏付けている。
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Neurology Podcast: Dr. Katie Krulisky and Dr. Cristina Domínguez-González discuss the complexities of #MitochondrialDisease, including diagnosis, biomarkers, and recent research on POLG-related disorders. Listen now: hubs.la/Q04fWjmb0
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