Genetics of amyotrophic lateral sclerosis: an update

Table 2 The genetics Of sALS

Gene	Protein	Chromosomal locus	Variant associated with ALS
APEX1	Apurinic Endonuclease DNA repair enzyme 1	14q11.2	SNP associations
ATXN2	Ataxin-2	12q24.12	Poly Q repeats
CHMP2B	Chromatin Modifying Protein 2B	3p11.2	Mutations
HFE	Haemochromatosis	6p22.2	SNP associations
NEFH	Neuro filament Heavy	22q12.2	Deletion and Insertions
SMN1	Survival Motor Neuron 1	5q12.2-q13.3	Abnormal copy number of genes
SMN2	Survival Motor Neuron 2	5q12.2-q13.3	Abnormal copy number of genes
PON 1,2,3	Paraoxonase	7q21.3	SNP associations and mutations
PRPH	Peripherin	12q13.12	mutations
VEGF	Vascular Endothelial Growth Factor	6p21	Promoter SNP’s
PGRN	Progranulin	17q21.31	Deletions

Although the cause of sALS is not known, the crosslink between genetic and environmental factors may contribute to the pathogenesis of sALS. APEX1, ATXN2, CHMP2B, HFE, NEFH, SMN1, SMN2, PON 1, PON2, PON3, PRPH, VEGF and PGRN are some of the genes associated with sALS. Single Nucleotide Polymorphisms (SNP’s), Polyglutamine (Poly Q) repeats, abnormal copy number of genes, deletion and insertion mutations are some of the associations found with the genes known to cause sporadic ALS.
Abbreviations for Table 2: APEX1 Apurinic Endonuclease DNA repair enzyme 1, ATXN2 Ataxin-2, CHMP2B Charged multivesicular body protein 2B, HFE Haemochromatosis, NEFH Neuro filament Heavy, SMN Survival Motor Neuron, PON Paraoxonase, PRPH Peripherin, VEGF Vascular Endothelial Growth Factor, PGRN Progranulin.

ISSN: 1750-1326