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A mutation in the  EFEMP1  gene causes Malattia Leventinese, an inherited macular degenerative disease with strong similarities to age-related macular degeneration.  EFEMP1  encodes fibulin-3, an extracellular matrix protein of unknown function. To investigate its biological role, the murine  Efemp1  gene was inactivated through targeted disruption.  Efemp1  −/−  mice exhibited reduced reproductivity, and displayed an early onset of aging-associated phenotypes including reduced lifespan, decreased body mass, lordokyphosis, reduced hair growth, and generalized fat, muscle and organ atrophy. However, these mice appeared to have normal wound healing ability.  Efemp1  −/−  mice on a C57BL/6 genetic background developed multiple large hernias including inguinal hernias, pelvic prolapse and protrusions of the xiphoid process. In contrast,  Efemp1  −/−  mice on a BALB/c background rarely had any forms of hernias, indicating the presence of modifiers for fibulin-3's function in different mouse strains. Histological analysis revealed a marked reduction of elastic fibers in fascia, a thin layer of connective tissue maintaining and protecting structures throughout the body. No apparent macular degeneration associated defects were found in  Efemp1  −/−  mice, suggesting that loss of fibulin-3 function is not the mechanism by which the mutation in  EFEMP1  causes macular degeneration. These data demonstrate that fibulin-3 plays an important role in maintaining the integrity of fascia connective tissues and regulates aging.

Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice