RT Book, Section
A1 Wishart, David S.
A2 Valle, David L.
A2 Antonarakis, Stylianos
A2 Ballabio, Andrea
A2 Beaudet, Arthur L.
A2 Mitchell, Grant A.
SR Print(0)
ID 1181400897
T1 Metabolism and Metabolic Disease Resources on the Web
T2 The Online Metabolic and Molecular Bases of Inherited Disease
YR 2019
FD 2019
PB McGraw-Hill Education
PP New York, NY
SN 9780071459969
LK ommbid.mhmedical.com/content.aspx?aid=1181400897
RD 2024/04/19
AB The  World  Wide  Web  has  changed  the  way  people  shop,  communicate,  and  learn.  It  also  has  fundamentally  changed  the  way  information  is  shared.  The  Web  has  had  a  particularly  profound  effect  in  the  life  sciences,  in  which  the  rapid  compilation  and  exchange  of  large  volumes  of  information  increasingly  is  becoming  the  norm.Hundreds  of  online  databases  containing  tens  of  gigabytes  of  biochemical  or  genetic  data,  along  with  hundreds  of  online  tutorials  covering  thousands  of  biomedical  subjects,  are  now  available  on  the  Web.  These  information-rich  Web  resources  are  becoming  integral  to  many  aspects  of  modern  biology  and  biomedical  research.This  chapter  reviews  some  of  the  key  online  database  that  are  dedicated  to  explaining  or  displaying  up-to-date  information  on  metabolism,  metabolic  pathways,  and  metabolic  diseases,  including  (1)  metabolic  pathway  databases,  (2)  metabolomic  databases,  (3)  genetic  and  metabolic  disease  databases,  (4)  single-nucleotide  polymorphism  (SNP)  and  mutation  databases,  and  (5)  sequence  databases.Most  online  metabolic  pathway  databases  are  image-rich  tools  that  are  designed  to  facilitate  the  exploration  of  metabolism  and  metabolites  across  many  different  species.  These  databases  also  serve  as  a  backbone  to  facilitate  many  practical  applications  in  biology,  including  comparative  genomics,  targeted  genome  annotation,  metabolite  tracing,  diet  prediction,  metabolic  engineering,  and  metabolic  simulation.  Metabolic  pathway  databases  often  have  served  as  the  basis  for  understanding  the  genetic  origins  of  newly  discovered  metabolic  disorders,  tracing  the  chemical  or  enzymatic  origins  of  disease-associated  metabolites,  and  suggesting  potential  dietary  and  drug  interventions  to  treat  inborn  errors  of  metabolism.Metabolomic  databases  such  as  the  Human  Metabolite  Database  (HMDB);  (http://www.hmdb.ca)  tend  to  offer  a  much  more  comprehensive  view  of  human  metabolism  by  combining  detailed  chemical  data  [such  as  assigned  mass  spectometry  (MS)  and  nuclear  magnetic  resonance  (NMR)  spectra  of  pure  metabolites]  that  would  appeal  to  clinical  chemists  with  detailed  sequence,  pathway,  genetic,  physiologic,  and  disease  information  that  would  appeal  to  clinicians  and  medical  geneticists.Online  genetic/metabolic  disease  databases  such  as  Online  Mendelian  Inheritance  in  Man  (OMIM);  (http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM)  and  MetaGene  (http://www.metagene.de/index.html)  are  critical  in  providing  up-to-date  information  and  context  to  the  many  hundreds  of  inherited  conditions  that  have  been  found  or  identified  over  the  last  quarter  century.  The  growth  in  the  number  of  online  genetic  and  metabolic  resources  over  the  last  decade  has  paralleled  the  growth  in  online  resources  and  online  databases  for  metabolic  pathways  and  metabolomics.Web-based  SNP  and  mutation  databases  represent  an  important  resource  for  understanding  the  molecular  basis  of  many  genetic  disorders,  including  inherited  metabolic  diseases.  Fundamentally,  SNP  and  mutation  databases  provide  key  insights  into  the  molecular-scale  defects  that  affect  the  expression  or  activity  of  many  disease-associated  proteins.  Because  disease  mutations  rarely  are  reported  in  the  literature  and  because  the  quantity  of  known  disease  mutations  is  so  large,  the  existence  of  these  online  databases  is  critical  to  ensuring  that  this  information  is  not  lost  to  the  scientific  community.Today’s  Web-based  resources  provide  a  remarkably  rich  collection  of  data,  images,  movies,  and  diagrams  that  can  be  searched,  browsed,  and  displayed  easily.  They  also  offer  flexibility  in  exploring  the  details  of  almost  any  human  disease,  gene,  metabolite,  or  metabolic  pathway  that  has  ever  been  found  or  described.