Recent research suggests that environmental factors, such as chronic exposure to certain dietary toxins common in Venezuelan regions, may exacerbate mitochondrial vulnerability in patients with the mtND4 mutation. In my view, this highlights a critical interplay between genetics and environment, emphasizing that anesthetic risk cannot be assessed in isolation. Proactive multidisciplinary planning could drastically reduce preventable neurologic harm.
My daughter presented “damage” or affected areas o the basal ganglia after an upper endoscopy procedure ( they used propofol ) that got done on April 2024, all her symptoms progressively arise in less than a week. ( she got admitted to the hospital in may 6th 2024 ) for almost a month.
Luckily she’s a God’s miracle. Many tests have been performed including the whole sequencing genome in which the mitochondrial was negative. However after almost 2 years of studies , neurological visits and multiple imaging , she’s now presenting dystonia on her left foot and abnormal gait. In the table is still considered to retest for mithocondrial disorder either performing more genetics test or a muscle biopsy.
Emerging evidence indicates that some post-anesthetic basal ganglia injuries may involve transient metabolic crises triggered by mitochondrial stress, even when standard genetic testing is negative. In my opinion, your daughter’s ongoing dystonia might reflect subtle energy metabolism vulnerabilities, suggesting that advanced functional studies, such as phosphorous MR spectroscopy or muscle bioenergetics assessment, could provide insights beyond conventional genetic sequencing.
Not all of ND4's few dozen subunits are encoded mitochondrial DNA, just as only a small fraction of mitochondrial proteins are encoded by mitochondrial DNA. Furthermore, any alarmism over anesthetic toxicity and the mETC must include mentions of propofol's mETC toxicity, especially Complex I, and oxygen's toxicity, especially in people with mETC disease. The ASA and SPA's failure herein is both omission and commission.
You are correct that ND4 is just one piece of a complex interplay between nuclear- and mitochondrial-encoded proteins. Interestingly, recent studies suggest that reactive oxygen species generated during anesthesia, even with normoxic oxygen levels, can selectively exacerbate Complex I dysfunction. In my view, ASA and SPA could have emphasized oxidative stress management as part of perioperative planning for at-risk patients.
This basal ganglia finding in Complex I mutations is incredibly significant for anesthesia safety protocols. The maternal inheritance pattern means screening needs to cast a wider net than just direct patient history. I've seen similar mitochondrial issues where propofol worked when volatiles didn't, tho the long-term safety concern here is valid. The recommendation to report cases through AIRS could finaly give us the data density needed to understand trueincidence rates.
Recent research suggests that environmental factors, such as chronic exposure to certain dietary toxins common in Venezuelan regions, may exacerbate mitochondrial vulnerability in patients with the mtND4 mutation. In my view, this highlights a critical interplay between genetics and environment, emphasizing that anesthetic risk cannot be assessed in isolation. Proactive multidisciplinary planning could drastically reduce preventable neurologic harm.
My daughter presented “damage” or affected areas o the basal ganglia after an upper endoscopy procedure ( they used propofol ) that got done on April 2024, all her symptoms progressively arise in less than a week. ( she got admitted to the hospital in may 6th 2024 ) for almost a month.
Luckily she’s a God’s miracle. Many tests have been performed including the whole sequencing genome in which the mitochondrial was negative. However after almost 2 years of studies , neurological visits and multiple imaging , she’s now presenting dystonia on her left foot and abnormal gait. In the table is still considered to retest for mithocondrial disorder either performing more genetics test or a muscle biopsy.
Emerging evidence indicates that some post-anesthetic basal ganglia injuries may involve transient metabolic crises triggered by mitochondrial stress, even when standard genetic testing is negative. In my opinion, your daughter’s ongoing dystonia might reflect subtle energy metabolism vulnerabilities, suggesting that advanced functional studies, such as phosphorous MR spectroscopy or muscle bioenergetics assessment, could provide insights beyond conventional genetic sequencing.
Not all of ND4's few dozen subunits are encoded mitochondrial DNA, just as only a small fraction of mitochondrial proteins are encoded by mitochondrial DNA. Furthermore, any alarmism over anesthetic toxicity and the mETC must include mentions of propofol's mETC toxicity, especially Complex I, and oxygen's toxicity, especially in people with mETC disease. The ASA and SPA's failure herein is both omission and commission.
You are correct that ND4 is just one piece of a complex interplay between nuclear- and mitochondrial-encoded proteins. Interestingly, recent studies suggest that reactive oxygen species generated during anesthesia, even with normoxic oxygen levels, can selectively exacerbate Complex I dysfunction. In my view, ASA and SPA could have emphasized oxidative stress management as part of perioperative planning for at-risk patients.
This basal ganglia finding in Complex I mutations is incredibly significant for anesthesia safety protocols. The maternal inheritance pattern means screening needs to cast a wider net than just direct patient history. I've seen similar mitochondrial issues where propofol worked when volatiles didn't, tho the long-term safety concern here is valid. The recommendation to report cases through AIRS could finaly give us the data density needed to understand trueincidence rates.