Seipin study not only is crucial for rare conditions such as BSCL type 2 and seipinopathies but also might be important in obesity pathogenesis or treatment, because of the relationship of that protein with adipose tissue homeostasis.
The most discussed clinical disease associated with seipin loss-of-function disorders is type 2 Berardinelli-Seip congenital lipodystrophy (BSCL type 2).
We hypothesize that this is a different situation compared with the in vivo constant hypertriglyceridemia, commonly found in BSCL type 2 patients .
Hence, we believe that BSCL type 2 metabolic features in nonadipogenic cells are caused by either secondary lipodystrophy-associated dysfunctions or some tissue-specific seipin loss-of-function.
However, we do know that it is a recessive condition and that only subjects who carry mutations in both alleles manifest BSCL type 2 (Figure 7(b)), even if the mutations are in different regions of the same gene (Figure 7(c)).
(b) and (d) are the most representative situations of Berardinelli-Seip congenital lipodystrophy (BSCL) type 2.
Bjornstad et al (9) reported 6 patients of BSCL presenting with myocardial hypertrophy.
(16.) Magre J, Delepine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Megarbane A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group.