Kremer Laura Sophie, Gao Guanbin, Rigoni Giovanni, Filograna Roberta, Mennuni Mara, Wibom Rolf, Végvári Ákos, Koolmeister Camilla, Larsson Nils-Göran
Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Department of Cellular Biochemistry, University Medical Center Göttingen, Göttingen, Germany.
Elife. 2025 Jun 30;14:RP104461. doi: 10.7554/eLife.104461.
Somatic mitochondrial DNA (mtDNA) mutations are implicated as important drivers of ageing and age-related diseases. Their pathological effect can be counteracted by increasing the absolute amount of wild-type mtDNA via moderately upregulating TFAM, a protein important for mtDNA packaging and expression. However, strong TFAM overexpression can also have detrimental effects as it results in mtDNA hypercompaction and subsequent impairment of mtDNA gene expression. Here, we have experimentally addressed the propensity of moderate TFAM modulation to improve the premature ageing phenotypes of mtDNA mutator mice, carrying random mtDNA mutations. Surprisingly, we detect tissue-specific endogenous compensatory mechanisms acting in mtDNA mutator mice, which largely affect the outcome of TFAM modulation. Accordingly, moderate overexpression of TFAM can have negative and beneficial effects in different tissues of mtDNA mutator mice. We see a similar behavior for TFAM reduction, which improves brown adipocyte tissue homeostasis, while other tissues are unaffected. Our findings highlight that the regulation of mtDNA copy number and gene expression is complex and causes tissue-specific effects that should be considered when modulating TFAM levels. Additionally, we suggest that TFAM is not the sole determinant of mtDNA copy number in situations where oxidative phosphorylation (OXPHOS) is compromised, but other important players must be involved.
体细胞线粒体DNA(mtDNA)突变被认为是衰老和年龄相关疾病的重要驱动因素。通过适度上调TFAM(一种对mtDNA包装和表达很重要的蛋白质)来增加野生型mtDNA的绝对量,可以抵消它们的病理效应。然而,强烈的TFAM过表达也可能产生有害影响,因为它会导致mtDNA过度压缩以及随后mtDNA基因表达受损。在这里,我们通过实验研究了适度调节TFAM改善携带随机mtDNA突变的mtDNA突变小鼠早衰表型的倾向。令人惊讶的是,我们检测到mtDNA突变小鼠中存在组织特异性的内源性补偿机制,这在很大程度上影响了TFAM调节的结果。因此,TFAM的适度过表达在mtDNA突变小鼠的不同组织中可能产生负面和有益影响。我们发现TFAM减少也有类似的情况,它改善了棕色脂肪细胞组织的稳态,而其他组织则不受影响。我们的研究结果强调,mtDNA拷贝数和基因表达的调节是复杂的,并且会产生组织特异性效应,在调节TFAM水平时应予以考虑。此外,我们认为在氧化磷酸化(OXPHOS)受损的情况下,TFAM不是mtDNA拷贝数的唯一决定因素,必然还涉及其他重要因素。