Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

The Effects of Three Thermo Electric Power Plants on Yerkesik-Denizova Forests in Mugla Province (Turkey)

Mugla is a city that is located in the southwest part of Turkey. Three thermo-electric power plants called Yatagan (3 × 210 MW) and Yenikoy (2 × 210 MW)and Kemerkoy (Gokova, 3 × 210 MW) havebeen constructed in this region and also have begun operation in 1982 – 1983 – 1984 (three units), in 1988 and in 1995, respectively. The Pinus brutia forests in Yerkesik–Denizova region have been under the common effects of Yenikoy and Yatagan thermo-electric power plants. Therefore, these Pinus brutia forests have startedto dry in groups since 1988. In addition, Kemerkoy thermo-electric power plant, began operation in 1995.Polluting gases arrived in Denizova-Yerkesik throughKoca Stream Valley Forests.Increasing quantities of polluting gases and especially SO₂ have dried the trees in large amounts in this 1650 ha forestland area. YataganThermo-electric power plant has caused drying of Pinus brutia in Bencik Mountain, which was on the south in 1984–1985. The same phenomenon was seen in Denizova-Yerkesik Forest in 1999–2000. It was observed that sulphur content was varying between 4218–6676 ppm at the Pinus brutia needle samples taken in this region on 16 December 2000. Sulphur contents were correlated with the age of needle (1–2 yr old), density of yellow stains on the needles and amount of drying needles. Particularly in 1996–2000 period, the destruction of chlorophyll in needles due to the impacts of SO₂ was also correlated with narrowing of the annual rings from one year to another. The narrowing ratio of yearly rings reached 60–504% for 94–95 yr old, and 375–661% for 58–63 yr old Pinus brutia trees during the 1986–1990, 1991–1995 and 1996–2000 periods.All these results clearly showed that the decrease in the chlorophyll content in needles under the effect of air pollution caused important reduction in the raw timber production and its inputs to the economy. In other words, drying due to increased ecological sensitivity or direct hazard of pollutants emitted by the power plants and cutting of trees have been notably increased in the region. This has created serious economic losses.     

The Effects of SO2 Pollutant on Forest Tree Needles at Mountainous Land around Izmir (Turkey)

Around the city of Izmir, Yamanlar – Manisa (north) Karabelen (south) andKemalpasa mountainous areas exist. The forested area in total covers 122,613.5 ha on these mountainous areas. This forested area has 6,146,387 m³ of wood potential. Industrial complex surroundingthe Aliaga, and thermo-electric power plants working with lignitecoal in the Soma region and some other small industrial establishmentsare located around Izmir and Manisa. These establishements have a vital importance in polluting the air. The forest, which suffers especially from SO₂ pollution, consists of Pinus brutia and Pinus nigra. Sulphur contents in 1, 2, 3 yr old needles of the trees were determined to range between 2000–8000 ppm. Microscopic investigation of the tree needles revealed that black blights on the needles indicate destruction of the cells. Annual ring thickness of trees measured showed that there has been a reduction in the forest growth and thisreduction is becoming more serious each year. Reduction in the wood production causes hundreds of billions of Turkish lira of economic loss to the Forestry Administration. It has been concluded at the end of this study that in order to stop theharm that the forests suffer, industrial establishments must pay an `ecological costs' to be added to their product cost items.