Show pageBacklinksCite current pageExport to PDFBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. **Mitochondrial cytopathy** is an older, umbrella term used to describe a heterogeneous group of disorders resulting from **mitochondrial dysfunction**, specifically involving defects in the **mitochondrial respiratory chain**, leading to impaired **ATP production**. --- ### 🧬 What does the term mean? * **“Cytopathy”** refers to cellular damage or disease; in this case, due to mitochondrial impairment. * It encompasses disorders caused by mutations in either **mitochondrial DNA (mtDNA)** or **nuclear DNA** that affect proteins essential for **oxidative phosphorylation**. * The clinical spectrum is broad, ranging from **isolated organ involvement** (e.g., optic atrophy or myopathy) to **severe multisystem syndromes** like **MELAS**, **Leigh syndrome**, or **MERRF**. --- ### 🔍 Why is the term considered outdated or imprecise? * It does **not specify the genetic cause** or the exact molecular defect. * It fails to indicate **which respiratory chain complex** is affected. * It blurs the line between **primary mitochondrial disorders** (genetically defined) and **secondary mitochondrial dysfunction** (e.g., due to toxins, aging, or acquired disease). * Modern classifications prefer terms like **“primary mitochondrial disease (PMD)”**, which reflect the **genotype–phenotype relationship** and guide diagnostic and therapeutic strategies more precisely. --- ### ✅ Summary * **"Mitochondrial cytopathy"** = a broad, historical term. * Now largely replaced by more specific nomenclature. * Still used in some clinical contexts when the diagnosis is **suspected but not genetically confirmed**. mitochondrial_cytopathy.txt Last modified: 2025/06/04 17:39by administrador