Progeria

SindromProgeria ProgeriaHutchinson-Gilford Hutchinson-Gilford Sindrom

Oleh: dr. T. Ade Prasetia Pembimbing: DR. dr. Dedy Syahrizal, M. Kes

PENDAHULUAN • Progeria → penyakit kesalahan kode genetik (terjadi mutasi), →kelainan protein (Lamin A) di inti sel → mengakibatkan penuaan dini sebelum waktunya.

• Hutchinson-Gilford Progeria Syndrome (HGPS)→ disebabkan oleh Aberrant splicing dari gen LMNA dan ekspresi produk mutan yang disebut progerin. 2

•

3

4

5

6

7

Fig. 3. Nuclear defects in HGPS cells. Immunofluorescence performed in primary normal human fibroblasts (NF) and HGPS patient derived fibroblasts (HGPS) with antibodies recognizing lamin A (green, top panels), histone modification H3K9me3 (red, medium panels), and H2AX (yelow, bottom panels), a marker of DNA damage. DAPI staining was used to demarcate nuclei (blue staining in all panels). Note how HGPS patient derived fibroblasts exhibit nuclear morphological abnormalities, decreased levels of H3K9me3, and accumulation of basal levels of unrepaired DNA damage, when compared to normal fibroblasts. 8

Fig. 4. Pathophysiolo gy of HGPS. Scheme shows the prominent symptoms and signs of HGPS, as well as potential treatments to test in the future to ameliorate the pathophysiolo gy of this devastating disease.

9

10

11

12

TERIMA KASIH TERIMA KASIH

13