Disease relevance of HPS5

• Clinically, our HPS-5 patients exhibited iris transillumination, variable hair and skin pigmentation, and absent platelet dense bodies, but not pulmonary fibrosis or granulomatous colitis [1].

High impact information on HPS5

• Genetic screening of 15 unassigned HPS patients yielded six new HPS5 mutations in four patients [1].
• We first analyzed the genomic organization and the RNA expression pattern of HPS5, located on chromosome 11p14, and demonstrated tissue-specific expression of at least three alternatively spliced HPS5 mRNA transcripts, coding for HPS5A and HPS5B proteins, that differ at their 5'-ends [1].
• In two patients with homozygous missense mutations, hemizygosity was ruled out by gene-dosage multiplex polymerase chain reaction, and immunocytochemical analyses of their fibroblasts supported the HPS-5 diagnosis [1].
• A different synthetic approach, stepwise synthesis, allowed us to synthesize the two multicomponent compounds [(bpy)(2)Ru(mu-1)Ru(bpy)(2)](4+) (Ru2; bpy = 2,2'-bipyridine) and [[(bpy)(2)Ru(mu-2,3-dpp)](2)Ru(mu-1)Ru[(mu-2,3-dpp)Ru(bpy)(2)](2)](12+) (Ru6; 2,3-dpp = 2,3-bis(2-pyridyl)pyrazine) [2].
• So far, a single HPS-6 patient phenotypically similar to HPS-3 and HPS-5 has been identified [3].

Anatomical context of HPS5

• This specific intracellular vesicle distribution in fibroblasts, in combination with the clinical features, will improve the characterization of the HPS-5 subtype [1].

Analytical, diagnostic and therapeutic context of HPS5

• We report a scanning tunneling microscopy (STM) investigation of a dinuclear organometallic molecule, trans-[Cl(dppe)(2)Ru(C identical withC)(6)Ru(dppe)(2)Cl] (Ru2), absorbed on a Au(111) surface; this molecule is a potential candidate for use in molecular quantum-dot cellular automata (QCA) devices [4].

References