still more on gene mutations and autism...

[Guest guest]

Reuters presents an overview:

Gene studies begin to unravel autism puzzle.

<http://www.reuters.com/article/2012/04/04/us-autism-usa-genes-idUSBRE8331282012\

0404>

A sweeping study of hundreds of families with autism has found that

spontaneous mutations can occur in a parent's sperm or egg cells that

increase a child's risk for autism, and fathers are four times more

likely than mothers to pass these mutations on to their children,

researchers said on Wednesday. The results of three new studies,

published in the journal Nature, suggest mutations in parts of genes

that code for proteins - called the exome - play a significant role in

autism. And while these genetic mistakes can occur across the genetic

code, and many are harmless, they can cause big problems when they occur

in parts of the genome needed for brain development....

Pubmed offers insights via a hasty search:

/(genotoxic* OR mutagenesis) AND (sperm OR egg)/

eg, Just a sampling not intended to be thorough:

Electromagnetic fields enhance chemically-induced hyperploidy in

mammalian oocytes. <http://www.ncbi.nlm.nih.gov/pubmed/9379913>

Mailhes JB, Young D, Marino AA, London SN.

Mutagenesis. 1997 Sep;12(5):347-51.

http://mutage.oxfordjournals.org/cgi/pmidlookup?view=long & pmid=9379913

Influence of GSTM1 and NAT2 genotypes on placental DNA adducts in an

environmentally exposed population.

<http://www.ncbi.nlm.nih.gov/pubmed/9329643>

Topinka J, Binková B, Mracková G, Stávková Z, ka V, Benes I, Dejmek

J, Lenícek J, Pilcík T, Srám RJ.

Environ Mol Mutagen. 1997;30(2):184-95.

The placenta bulky DNA adducts have been studied in relation to

metabolic genotypes for glutathione S-transferase M1 (GSTM1) and

N-acetyl transferase 2 (NAT2) in 158 mothers (113 nonsmokers and 45

smokers) living in two regions with different annual average air

pollution levels of sulphur dioxide, nitrogen oxides, particulate matter

< 10 microns, and polycyclic aromatic hydrocarbons... Significant

district and seasonal differences were found in subgroups with

GSTM1-negative genotype. DNA adduct levels in placentas of the

GSTM1-negative subgroup were higher in mothers living in the polluted

district of Teplice than in Prachatice (P = .012). The adduct levels in

placentas sampled in the summer period were higher than in the winter

period in the GSTM1-negative population (P = .006). No effect of the

NAT2 genotype on DNA adduct levels was observed.

PAH-DNA adducts in environmentally exposed population in relation to

metabolic and DNA repair gene polymorphisms.

<http://www.ncbi.nlm.nih.gov/pubmed/17412371>

Binkova B, Chvatalova I, Lnenickova Z, Milcova A, Tulupova E, Farmer PB,

Sram RJ.

Mutat Res. 2007 Jul 1;620(1-2):49-61.

Sperm chromatin alteration and DNA damage by methyl-parathion,

chlorpyrifos and diazinon and their oxon metabolites in human

spermatozoa. <http://www.ncbi.nlm.nih.gov/pubmed/18595656>

Salazar-Arredondo E, de Jesús Solís-Heredia M, Rojas-García E,

Hernández-Ochoa I, Quintanilla-Vega B.

Reprod Toxicol. 2008 Aug;25(4):455-60.

Extensive use of organophosphorous pesticides (OP) by young men

represents a public health problem. Toxicity of OP mainly results in

neurotoxicity due to their oxygen analogues (oxons), formed during the

OP oxidative activation. OP alter semen quality and sperm chromatin and

DNA at different stages of spermatogenesis. Oxons are more toxic than

the parent compounds; however, their toxicity to spermatogenic cells has

not been reported. We evaluated sperm DNA damage by several OP compounds

and their oxons in human spermatozoa from healthy volunteers incubated

with 50-750 microM of methyl-parathion (MePA), methyl-paraoxon (MePO),

chlorpyrifos (CPF), chlorpyrifos-oxon (CPO), diazinon (DZN) or diazoxon

(DZO). All concentrations were not cytotoxic (evaluated by eosin-Y

exclusion), except 750 microM MePO. Oxons were 15% to 10 times more

toxic to sperm DNA (evaluated by the SCSA parameter, %DFI) than their

corresponding parent compounds, at the following order:

MePO>CPO=MePA>CPF>DZO>DZN, suggesting that oxon metabolites participate

in OP sperm genotoxicity.

Interactions between exposure to environmental polycyclic aromatic

hydrocarbons and DNA repair gene polymorphisms on bulky DNA adducts in

human sperm. <http://www.ncbi.nlm.nih.gov/pubmed/20957144>

Ji G, Gu A, Zhou Y, Shi X, Xia Y, Long Y, Song L, Wang S, Wang X.

PLoS One. 2010 Oct 5;5(10). pii: e13145.

http://dx.plos.org/10.1371/journal.pone.0013145

In vitro evaluation of baseline and induced DNA damage in human sperm

exposed to benzo[a]pyrene or its metabolite

benzo[a]pyrene-7,8-diol-9,10-epoxide, using the comet assay.

<http://www.ncbi.nlm.nih.gov/pubmed/20488941>

Sipinen V, Laubenthal J, Baumgartner A, Cemeli E, Linschooten JO,

Godschalk RW, Van Schooten FJ, D, Brunborg G.

Mutagenesis. 2010 Jul;25(4):417-25.

http://mutage.oxfordjournals.org/cgi/pmidlookup?view=long & pmid=20488941

Environmental car exhaust pollution damages human sperm chromatin and

DNA. <http://www.ncbi.nlm.nih.gov/pubmed/20959722>

Calogero AE, La Vignera S, Condorelli RA, Perdichizzi A, et al.

J Endocrinol Invest. 2011 Jun;34(6):e139-43.

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