台發表首例「玻璃娃娃」幹細胞治療案例

choi

BBC Chinese, Dec 18, 2013.
www.bbc.co.uk/zhongwen/trad/scie ... rl_stem_cells.shtml

My comment:
(a) The abstract of the report
Götherström C et al, Pre- and Postnatal Transplantation of Fetal Mesenchymal Stem Cells in Osteogenesis Imperfecta: A Two-Center Experience. Stem Cells Transl Med, _: _ (Dec 16, 2013; Epub ahead of print)
www.ncbi.nlm.nih.gov/pubmed/24342908
("A second fetus with OI type IV" who is Taiwanese)
(i) Because it is not yet formally published (in paper; presently online, available to subscribers only), there is no way to know what is going on, such as procedure, material, which was the lead institution etc.
(ii) translational research (n; First Known Use 1986):
"medical research that is concerned with facilitating the practical application of scientific discoveries to the development and implementation of new ways to prevent, diagnose, and treat disease —called also translational medicine"
www.merriam-webster.com/dictionary/translational%20research
(iii) translational medicine:
(A) "A popular term for the bench-to-bedside 'translation' of basic scientific research to practicable diagnostic procedure and therapies with meaningful improvements in physical, mental, or social health outcomes"  Segen's Medical Dictionary. © 2012 Farlex, Inc
(B) "Molecular medicine[:] The constellation of activities which seek to translate the science of gene discovery, gene transfer, and functional genomics into gene-targeted therapies"  McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc
medical-dictionary.thefreedictionary.com/Translational+Medicine

(b)
(i) osteogenesis imperfecta. National Library of Medicine (NLM), US National Institute of Medicine (NIH), undated
http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm
("frequently [but not always] caused by defect in the gene that produces type 1 collagen, an important building block of bone")
(ii) Basel D and Steiner RD, Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med, 11: 375-85 (2009)
www.ncbi.nlm.nih.gov/pubmed/19533842
("In approximately 90% of individuals with osteogenesis imperfecta, mutations in either of the genes encoding the pro-alpha1 or pro-alpha2 chains of type I collagen (COL1A1 or COL1A2) can be identified")
(iii) Collagen, type I, alpha 1
en.wikipedia.org/wiki/Collagen,_type_I,_alpha_1
(section 3 Clinical significance: Osteogenesis imperfecta, type IV)

Quote: "The COL1A1 gene produces a component of type I collagen, called the pro-alpha1(I) chain. This chain combines with another pro-alpha1(I) chain and also with a pro-alpha2(I) chain (produced by the COL1A2 gene) to make a molecule of type I procollagen. These triple-stranded, rope-like procollagen molecules must be processed by enzymes outside the cell.

(iv) What does the quotation mean?  A picture is worth a thousand words.

Elizabeth G Canty and Karl E Kadler, Procollagen Trafficking, Processing and Fibrillogenesis. Journal of Cell Sci, 118: 1341-1353 (2005).
jcs.biologists.org/content/118/7/1341.full

View Figure 2 only, where N and C denotes head and tail of a peptide (made of a chain of amino acids), which could be proalpha1 or proalpha2 in (b)(iii) above.
(v)
(A) One can appreciate the 3-D model of collagen in

Thomas J Herbert, Protein. Department of Biology, University of Miami, un
www.bio.miami.edu/tom/courses/bil255/bil255goods/03_proteins.html
(section 6 The collagen helix)
(B) How collagen's 3-D strcuture was discovered:

Linus Pauling and Robert B Corey, The Structure of Fibrous Proteins of the Collagen-Gelatin Group. Proc Nat Acad Sci 37: 272-281 (1951)
proposed triple-helix structure for collagen, which was confirmed by crystallography by
Alexander Rich and FHC Crick, The Structure of Collagen. Nature, 176: 915-916 (1955).

Due to this, for two years many scientists thought DNA was also made of triple helix (three strands), which was debunked by
James D Watson J.D. and FHC Crick,  A Structure for Deoxyribose Nucleic Acid. Nature, 171: 737-738 (1953)
(double helix: two strands).