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Biology subjects

Garcia Manteiga, J. M.

Publications and source records attributed to Garcia Manteiga, J. M..

2 recordsLinked to original sources

The interferon-gamma response pathway is a targetable driver of FSHD muscular dystrophy progression

Facioscapulohumeral muscular dystrophy (FSHD) is a leading neuromuscular disorder caused by the aberrant expression of the transcription factor double homeobox 4 (DUX4) in skeletal muscle. While DUX4 is normally restricted to early embryonic development, its reactivation in FSHD triggers chronic inflammation and progressive muscle degeneration. However, the precise molecular links between DUX4 and persistent immune activation remain poorly understood. Here, we show that DUX4 induces a viral mimicry-like pathway that is fundamentally uncoupled from canonical type I interferon (IFN) activation. Instead, DUX4 establishes a non-canonical innate immune state dominated by IFN-gamma signaling, providing a mechanistic explanation for the non-resolving inflammation characteristic of the disease. We demonstrate that while IFN-gamma treatment alone is sufficient to recapitulate key DUX4 pathogenic effects, its inhibition rescues muscle inflammation and halts disease progression in FSHD models. These findings define a skewed viral mimicry process driven by a disease-specific transcription factor and identify IFN-gamma as a primary therapeutic target for tissue-informed immunomodulation in muscular dystrophy.

genetics↗

Single genome analysis of normal cells identifies the early steps of kidney cancer.

Whole genome analyses have shown that every cell of the body accumulates thousands of genetic changes during a lifetime, with implications for cancer initiation. We have analyzed normal kidney cells from both healthy individuals and patients with the Von Hippel Lindau (VHL) syndrome, which predisposes to kidney cancer. Using a clonal-expansion method that enables the collection of high confidence genetic and gene expression data from the same cell, we define a new mutational signature that marks a specific subset of damage-activated proximal tubule cells, as well as 96% of clear cell renal cell carcinomas. The underlying mutational process is specifically active in highly transcribed DNA and impacts the occurrence of cancer driver variants in the VHL gene. Our data from normal cells, supported by in vitro experiments, point to perturbations of oxygen availability as a causative factor. These findings link hypoxia, a frequent endogenous stress in the normal renal tissue, to excessive mutation and cancer initiation.

cancer biology↗