科學家近日確認了一種極為罕見的神經疾病，名為 MINA 症候群（Mutation in NAMPT Axonopathy）。這不是典型的結構性損傷，而是神經細胞能量供應崩潰所引發的疾病。 關鍵在一個酵素：NAMPT。 NAMPT 是製造 NAD（菸鹼醯胺腺嘌呤二核苷酸） 的核心酵素，而 NAD 幾乎為每一個細胞功能提供能量燃料。當 NAMPT 發生突變，NAD 產生受阻，細胞就會陷入「缺電」狀態。 雖然這個突變影響全身細胞，但最先、也最嚴重受害的是運動神經元。原因很簡單：運動神經元是人體最長、最耗能的神經細胞，必須不間斷地將訊號從脊髓傳到肌肉。一旦能量供應不足，這些長纖維就會逐步失去功能，甚至開始退化。 臨床表現上，MINA 症候群患者會出現漸進式肌肉無力、行走困難，嚴重時可能喪失行動能力，需依賴輪椅。研究指出，這類神經病變的根本原因，並非神經被直接破壞，而是能量長期不足，導致神經無法維持運作。 這項發現的重要性在於，它為神經疾病提供了一個全新視角： 神經退化不一定源自結構損傷，也可能是細胞層級的能量失衡。 目前 MINA 症候群尚無根治方式，但研究團隊正積極探索能否透過恢復 NAD
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科學家近日確認了一種極為罕見的神經疾病，名為 MINA 症候群（Mutati…
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