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Monocarboxylate transporter 8 deficiency: from pathophysiological understanding to therapy development

Growth hormone-releasing peptides (GHRPs) can increase protein synthesis and reduce muscle damage

These changes can support fat loss goals but warrant attention to ensure adequate nutrition

Primer sequences used were as follows: GAPDH (F: CCTCGTCCCGTAGACAAAATG, R: TGAGGTCAATGAAGGGGTCGT);ANP (F: CCGATAGATCTGCCCTCTTGAA, R: GCTGTTGCAGCCTAGTCCACT);BNP (F: GGAGGCGAGACAAGGGAGAA, R: CCAGCGGTGACAGATAAAGGAA);-MHC (F: ATGAGGAGTAGCTCTTGTGCTACC, R: CCACCTAAAGGGCTGTTGC);All primers were synthesized by RiboBio (Guangzhou, China)

In contrast, gene therapy aims for a one-time, definitive intervention addressing the genetic root cause, with potential for sustained neuroprotection, though the clinical trials highlight challenges including the need for cautious evaluation given spontaneous recovery in LHON and relatively small sample sizes limiting generalizability