This is a chromosomal disorder resulting from the presence of an extra chromosome at the chromosome 21. it is otherwise called Trisomy 21. Chromosome 21 is one of the chromosomes of the body that have been exclusively elucidated. It has many genes which are involved in the production of many proteins. These include Amyloid betaA4 precursor proteins, Claudin 14, Holocarboxylase Synthetase, Cystathionine-beta-Synthase, Superoxide dismutase , Transmembrane protease, Leukocyte adhesion deficiency, Potassium voltage-gated channels.
There will be problems with the production of above listed protein when there is down syndrome leading to many diseases like Amyotrophic lateral sclerosis, Alzheimer’s disease, Holocarboxylase synthetase deficiency, Homocystinuria and many more diseases.
Reference
Down syndrome: http://www. genecards. org/cgi-bin/listdiseasecards. pl? type=chrom&search=21 Retrieved date: May 23, 2008 • • Alzheimer’s disease type 1 • Amyotrophic lateral sclerosis • Amyotrophic lateral sclerosis type 1 • Down syndrome • Holocarboxylase synthetase deficiency • Homocystinuria • Jervell and Lange-Nielsen syndrome • Leukocyte adhesion deficiency
• Nonsyndromic deafness • Nonsyndromic deafness, autosomal recessive • Romano-Ward syndrome Majewski osteodysplastic primordial dwarfism type II • APP: amyloid beta (A4) precursor protein (peptidase nexin-II, Alzheimer disease) • CBS: cystathionine-beta-synthase • CLDN14: claudin 14 • HLCS: holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase) • KCNE1: potassium voltage-gated channel, Isk-related family, member 1 • KCNE2: potassium voltage-gated channel, Isk-related family, member 2 • LAD: leukocyte adhesion deficiency (symbols are ITGB2, CD18, LCAMB)
• SOD1: superoxide dismutase 1, soluble (amyotrophic lateral sclerosis 1 (adult)) • TMPRSS3: transmembrane protease, serine 3 • PCNT: centrosomal pericentrin • • • Alzheimer’s disease • Alzheimer’s disease type 1 • Amyotrophic lateral sclerosis • Amyotrophic lateral sclerosis type 1 • Down syndrome • Holocarboxylase synthetase deficiency • Homocystinuria • Jervell and Lange-Nielsen syndrome • Leukocyte adhesion deficiency • Nonsyndromic deafness • Nonsyndromic deafness, autosomal recessive • Romano-Ward syndrome • Majewski osteodysplastic primordial dwarfism type II (MOPD II, or MOPD2